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Items: 1 to 20 of 1000

1.

rs1491556539 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    ->GGC
    Chromosome:
    no mapping
    Canonical SPDI:

    2.

    rs1491487663 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TG>- [Show Flanks]
      Chromosome:
      2:241026033 (GRCh38)
      2:241965450 (GRCh37)
      Canonical SPDI:
      NC_000002.12:241026032:TG:
      Gene:
      SNED1 (Varview), SNED1-AS1 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:

      3.

      rs1491484172 [Homo sapiens]
        Variant type:
        SNV:
        Alleles:
        ->CTTTTT
        Chromosome:
        no mapping
        Canonical SPDI:

        4.

        rs1491476022 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          2:241047146 (GRCh38)
          2:241986563 (GRCh37)
          Canonical SPDI:
          NC_000002.12:241047145:CA:
          Gene:
          SNED1 (Varview), MTERF4 (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0.0032/38 (ALFA)
          HGVS:

          5.

          rs1491434472 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->G [Show Flanks]
            Chromosome:
            2:241039426 (GRCh38)
            2:241978844 (GRCh37)
            Canonical SPDI:
            NC_000002.12:241039426:GGGG:GGGGG
            Gene:
            SNED1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            GGGGG=0./0 (ALFA)
            G=0.000007/1 (GnomAD)
            HGVS:

            6.

            rs1491427993 has merged into rs10573691 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              CCCCCCCCC>-,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCC [Show Flanks]
              Chromosome:
              2:241095067 (GRCh38)
              2:242034482 (GRCh37)
              Canonical SPDI:
              NC_000002.12:241095060:CCCCCCCCCCCCCCC:CCCCCC,NC_000002.12:241095060:CCCCCCCCCCCCCCC:CCCCCCCCC,NC_000002.12:241095060:CCCCCCCCCCCCCCC:CCCCCCCCCC,NC_000002.12:241095060:CCCCCCCCCCCCCCC:CCCCCCCCCCC,NC_000002.12:241095060:CCCCCCCCCCCCCCC:CCCCCCCCCCCC,NC_000002.12:241095060:CCCCCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000002.12:241095060:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000002.12:241095060:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000002.12:241095060:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000002.12:241095060:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000002.12:241095060:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000002.12:241095060:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000002.12:241095060:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC
              Gene:
              SNED1 (Varview), MTERF4 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              CCCCCC=0./0 (ALFA)
              CCCC=0.1104/553 (1000Genomes)
              HGVS:
              NC_000002.12:g.241095067_241095075del, NC_000002.12:g.241095070_241095075del, NC_000002.12:g.241095071_241095075del, NC_000002.12:g.241095072_241095075del, NC_000002.12:g.241095073_241095075del, NC_000002.12:g.241095074_241095075del, NC_000002.12:g.241095075del, NC_000002.12:g.241095075dup, NC_000002.12:g.241095074_241095075dup, NC_000002.12:g.241095073_241095075dup, NC_000002.12:g.241095072_241095075dup, NC_000002.12:g.241095071_241095075dup, NC_000002.12:g.241095070_241095075dup, NC_000002.11:g.242034482_242034490del, NC_000002.11:g.242034485_242034490del, NC_000002.11:g.242034486_242034490del, NC_000002.11:g.242034487_242034490del, NC_000002.11:g.242034488_242034490del, NC_000002.11:g.242034489_242034490del, NC_000002.11:g.242034490del, NC_000002.11:g.242034490dup, NC_000002.11:g.242034489_242034490dup, NC_000002.11:g.242034488_242034490dup, NC_000002.11:g.242034487_242034490dup, NC_000002.11:g.242034486_242034490dup, NC_000002.11:g.242034485_242034490dup, NM_001080437.3:c.*3431_*3439del, NM_001080437.3:c.*3434_*3439del, NM_001080437.3:c.*3435_*3439del, NM_001080437.3:c.*3436_*3439del, NM_001080437.3:c.*3437_*3439del, NM_001080437.3:c.*3438_*3439del, NM_001080437.3:c.*3439del, NM_001080437.3:c.*3439dup, NM_001080437.3:c.*3438_*3439dup, NM_001080437.3:c.*3437_*3439dup, NM_001080437.3:c.*3436_*3439dup, NM_001080437.3:c.*3435_*3439dup, NM_001080437.3:c.*3434_*3439dup, NM_001080437.2:c.*3431_*3439del, NM_001080437.2:c.*3434_*3439del, NM_001080437.2:c.*3435_*3439del, NM_001080437.2:c.*3436_*3439del, NM_001080437.2:c.*3437_*3439del, NM_001080437.2:c.*3438_*3439del, NM_001080437.2:c.*3439del, NM_001080437.2:c.*3439dup, NM_001080437.2:c.*3438_*3439dup, NM_001080437.2:c.*3437_*3439dup, NM_001080437.2:c.*3436_*3439dup, NM_001080437.2:c.*3435_*3439dup, NM_001080437.2:c.*3434_*3439dup, XM_011510931.3:c.*3431_*3439del, XM_011510931.3:c.*3434_*3439del, XM_011510931.3:c.*3435_*3439del, XM_011510931.3:c.*3436_*3439del, XM_011510931.3:c.*3437_*3439del, XM_011510931.3:c.*3438_*3439del, XM_011510931.3:c.*3439del, XM_011510931.3:c.*3439dup, XM_011510931.3:c.*3438_*3439dup, XM_011510931.3:c.*3437_*3439dup, XM_011510931.3:c.*3436_*3439dup, XM_011510931.3:c.*3435_*3439dup, XM_011510931.3:c.*3434_*3439dup, XM_011510931.2:c.*3431_*3439del, XM_011510931.2:c.*3434_*3439del, XM_011510931.2:c.*3435_*3439del, XM_011510931.2:c.*3436_*3439del, XM_011510931.2:c.*3437_*3439del, XM_011510931.2:c.*3438_*3439del, XM_011510931.2:c.*3439del, XM_011510931.2:c.*3439dup, XM_011510931.2:c.*3438_*3439dup, XM_011510931.2:c.*3437_*3439dup, XM_011510931.2:c.*3436_*3439dup, XM_011510931.2:c.*3435_*3439dup, XM_011510931.2:c.*3434_*3439dup, XM_011510932.3:c.*3431_*3439del, XM_011510932.3:c.*3434_*3439del, XM_011510932.3:c.*3435_*3439del, XM_011510932.3:c.*3436_*3439del, XM_011510932.3:c.*3437_*3439del, XM_011510932.3:c.*3438_*3439del, XM_011510932.3:c.*3439del, XM_011510932.3:c.*3439dup, XM_011510932.3:c.*3438_*3439dup, XM_011510932.3:c.*3437_*3439dup, XM_011510932.3:c.*3436_*3439dup, XM_011510932.3:c.*3435_*3439dup, XM_011510932.3:c.*3434_*3439dup, XM_011510932.2:c.*3431_*3439del, XM_011510932.2:c.*3434_*3439del, XM_011510932.2:c.*3435_*3439del, XM_011510932.2:c.*3436_*3439del, XM_011510932.2:c.*3437_*3439del, XM_011510932.2:c.*3438_*3439del, XM_011510932.2:c.*3439del, XM_011510932.2:c.*3439dup, XM_011510932.2:c.*3438_*3439dup, XM_011510932.2:c.*3437_*3439dup, XM_011510932.2:c.*3436_*3439dup, XM_011510932.2:c.*3435_*3439dup, XM_011510932.2:c.*3434_*3439dup, XR_002959260.2:n.8934_8942del, XR_002959260.2:n.8937_8942del, XR_002959260.2:n.8938_8942del, XR_002959260.2:n.8939_8942del, XR_002959260.2:n.8940_8942del, XR_002959260.2:n.8941_8942del, XR_002959260.2:n.8942del, XR_002959260.2:n.8942dup, XR_002959260.2:n.8941_8942dup, XR_002959260.2:n.8940_8942dup, XR_002959260.2:n.8939_8942dup, XR_002959260.2:n.8938_8942dup, XR_002959260.2:n.8937_8942dup, XR_002959260.1:n.8578_8586del, XR_002959260.1:n.8581_8586del, XR_002959260.1:n.8582_8586del, XR_002959260.1:n.8583_8586del, XR_002959260.1:n.8584_8586del, XR_002959260.1:n.8585_8586del, XR_002959260.1:n.8586del, XR_002959260.1:n.8586dup, XR_002959260.1:n.8585_8586dup, XR_002959260.1:n.8584_8586dup, XR_002959260.1:n.8583_8586dup, XR_002959260.1:n.8582_8586dup, XR_002959260.1:n.8581_8586dup, XR_002959255.2:n.8782_8790del, XR_002959255.2:n.8785_8790del, XR_002959255.2:n.8786_8790del, XR_002959255.2:n.8787_8790del, XR_002959255.2:n.8788_8790del, XR_002959255.2:n.8789_8790del, XR_002959255.2:n.8790del, XR_002959255.2:n.8790dup, XR_002959255.2:n.8789_8790dup, XR_002959255.2:n.8788_8790dup, XR_002959255.2:n.8787_8790dup, XR_002959255.2:n.8786_8790dup, XR_002959255.2:n.8785_8790dup, XR_002959255.1:n.8646_8654del, XR_002959255.1:n.8649_8654del, XR_002959255.1:n.8650_8654del, XR_002959255.1:n.8651_8654del, XR_002959255.1:n.8652_8654del, XR_002959255.1:n.8653_8654del, XR_002959255.1:n.8654del, XR_002959255.1:n.8654dup, XR_002959255.1:n.8653_8654dup, XR_002959255.1:n.8652_8654dup, XR_002959255.1:n.8651_8654dup, XR_002959255.1:n.8650_8654dup, XR_002959255.1:n.8649_8654dup, XR_002959254.2:n.8642_8650del, XR_002959254.2:n.8645_8650del, XR_002959254.2:n.8646_8650del, XR_002959254.2:n.8647_8650del, XR_002959254.2:n.8648_8650del, XR_002959254.2:n.8649_8650del, XR_002959254.2:n.8650del, XR_002959254.2:n.8650dup, XR_002959254.2:n.8649_8650dup, XR_002959254.2:n.8648_8650dup, XR_002959254.2:n.8647_8650dup, XR_002959254.2:n.8646_8650dup, XR_002959254.2:n.8645_8650dup, XR_002959254.1:n.8878_8886del, XR_002959254.1:n.8881_8886del, XR_002959254.1:n.8882_8886del, XR_002959254.1:n.8883_8886del, XR_002959254.1:n.8884_8886del, XR_002959254.1:n.8885_8886del, XR_002959254.1:n.8886del, XR_002959254.1:n.8886dup, XR_002959254.1:n.8885_8886dup, XR_002959254.1:n.8884_8886dup, XR_002959254.1:n.8883_8886dup, XR_002959254.1:n.8882_8886dup, XR_002959254.1:n.8881_8886dup, XR_002959256.2:n.8543_8551del, XR_002959256.2:n.8546_8551del, XR_002959256.2:n.8547_8551del, XR_002959256.2:n.8548_8551del, XR_002959256.2:n.8549_8551del, XR_002959256.2:n.8550_8551del, XR_002959256.2:n.8551del, XR_002959256.2:n.8551dup, XR_002959256.2:n.8550_8551dup, XR_002959256.2:n.8549_8551dup, XR_002959256.2:n.8548_8551dup, XR_002959256.2:n.8547_8551dup, XR_002959256.2:n.8546_8551dup, XR_002959256.1:n.8780_8788del, XR_002959256.1:n.8783_8788del, XR_002959256.1:n.8784_8788del, XR_002959256.1:n.8785_8788del, XR_002959256.1:n.8786_8788del, XR_002959256.1:n.8787_8788del, XR_002959256.1:n.8788del, XR_002959256.1:n.8788dup, XR_002959256.1:n.8787_8788dup, XR_002959256.1:n.8786_8788dup, XR_002959256.1:n.8785_8788dup, XR_002959256.1:n.8784_8788dup, XR_002959256.1:n.8783_8788dup, XR_002959257.2:n.8528_8536del, XR_002959257.2:n.8531_8536del, XR_002959257.2:n.8532_8536del, XR_002959257.2:n.8533_8536del, XR_002959257.2:n.8534_8536del, XR_002959257.2:n.8535_8536del, XR_002959257.2:n.8536del, XR_002959257.2:n.8536dup, XR_002959257.2:n.8535_8536dup, XR_002959257.2:n.8534_8536dup, XR_002959257.2:n.8533_8536dup, XR_002959257.2:n.8532_8536dup, XR_002959257.2:n.8531_8536dup, XR_002959257.1:n.8764_8772del, XR_002959257.1:n.8767_8772del, XR_002959257.1:n.8768_8772del, XR_002959257.1:n.8769_8772del, XR_002959257.1:n.8770_8772del, XR_002959257.1:n.8771_8772del, XR_002959257.1:n.8772del, XR_002959257.1:n.8772dup, XR_002959257.1:n.8771_8772dup, XR_002959257.1:n.8770_8772dup, XR_002959257.1:n.8769_8772dup, XR_002959257.1:n.8768_8772dup, XR_002959257.1:n.8767_8772dup, XR_002959262.2:n.8490_8498del, XR_002959262.2:n.8493_8498del, XR_002959262.2:n.8494_8498del, XR_002959262.2:n.8495_8498del, XR_002959262.2:n.8496_8498del, XR_002959262.2:n.8497_8498del, XR_002959262.2:n.8498del, XR_002959262.2:n.8498dup, XR_002959262.2:n.8497_8498dup, XR_002959262.2:n.8496_8498dup, XR_002959262.2:n.8495_8498dup, XR_002959262.2:n.8494_8498dup, XR_002959262.2:n.8493_8498dup, XR_002959262.1:n.8410_8418del, XR_002959262.1:n.8413_8418del, XR_002959262.1:n.8414_8418del, XR_002959262.1:n.8415_8418del, XR_002959262.1:n.8416_8418del, XR_002959262.1:n.8417_8418del, XR_002959262.1:n.8418del, XR_002959262.1:n.8418dup, XR_002959262.1:n.8417_8418dup, XR_002959262.1:n.8416_8418dup, XR_002959262.1:n.8415_8418dup, XR_002959262.1:n.8414_8418dup, XR_002959262.1:n.8413_8418dup, XR_002959258.2:n.8414_8422del, XR_002959258.2:n.8417_8422del, XR_002959258.2:n.8418_8422del, XR_002959258.2:n.8419_8422del, XR_002959258.2:n.8420_8422del, XR_002959258.2:n.8421_8422del, XR_002959258.2:n.8422del, XR_002959258.2:n.8422dup, XR_002959258.2:n.8421_8422dup, XR_002959258.2:n.8420_8422dup, XR_002959258.2:n.8419_8422dup, XR_002959258.2:n.8418_8422dup, XR_002959258.2:n.8417_8422dup, XR_002959258.1:n.8654_8662del, XR_002959258.1:n.8657_8662del, XR_002959258.1:n.8658_8662del, XR_002959258.1:n.8659_8662del, XR_002959258.1:n.8660_8662del, XR_002959258.1:n.8661_8662del, XR_002959258.1:n.8662del, XR_002959258.1:n.8662dup, XR_002959258.1:n.8661_8662dup, XR_002959258.1:n.8660_8662dup, XR_002959258.1:n.8659_8662dup, XR_002959258.1:n.8658_8662dup, XR_002959258.1:n.8657_8662dup, XR_002959263.2:n.7710_7718del, XR_002959263.2:n.7713_7718del, XR_002959263.2:n.7714_7718del, XR_002959263.2:n.7715_7718del, XR_002959263.2:n.7716_7718del, XR_002959263.2:n.7717_7718del, XR_002959263.2:n.7718del, XR_002959263.2:n.7718dup, XR_002959263.2:n.7717_7718dup, XR_002959263.2:n.7716_7718dup, XR_002959263.2:n.7715_7718dup, XR_002959263.2:n.7714_7718dup, XR_002959263.2:n.7713_7718dup, XR_002959263.1:n.7773_7781del, XR_002959263.1:n.7776_7781del, XR_002959263.1:n.7777_7781del, XR_002959263.1:n.7778_7781del, XR_002959263.1:n.7779_7781del, XR_002959263.1:n.7780_7781del, XR_002959263.1:n.7781del, XR_002959263.1:n.7781dup, XR_002959263.1:n.7780_7781dup, XR_002959263.1:n.7779_7781dup, XR_002959263.1:n.7778_7781dup, XR_002959263.1:n.7777_7781dup, XR_002959263.1:n.7776_7781dup, NR_138463.2:n.2089_2097del, NR_138463.2:n.2092_2097del, NR_138463.2:n.2093_2097del, NR_138463.2:n.2094_2097del, NR_138463.2:n.2095_2097del, NR_138463.2:n.2096_2097del, NR_138463.2:n.2097del, NR_138463.2:n.2097dup, NR_138463.2:n.2096_2097dup, NR_138463.2:n.2095_2097dup, NR_138463.2:n.2094_2097dup, NR_138463.2:n.2093_2097dup, NR_138463.2:n.2092_2097dup, NR_138463.1:n.2134_2142del, NR_138463.1:n.2137_2142del, NR_138463.1:n.2138_2142del, NR_138463.1:n.2139_2142del, NR_138463.1:n.2140_2142del, NR_138463.1:n.2141_2142del, NR_138463.1:n.2142del, NR_138463.1:n.2142dup, NR_138463.1:n.2141_2142dup, NR_138463.1:n.2140_2142dup, NR_138463.1:n.2139_2142dup, NR_138463.1:n.2138_2142dup, NR_138463.1:n.2137_2142dup, NR_138466.2:n.2089_2097del, NR_138466.2:n.2092_2097del, NR_138466.2:n.2093_2097del, NR_138466.2:n.2094_2097del, NR_138466.2:n.2095_2097del, NR_138466.2:n.2096_2097del, NR_138466.2:n.2097del, NR_138466.2:n.2097dup, NR_138466.2:n.2096_2097dup, NR_138466.2:n.2095_2097dup, NR_138466.2:n.2094_2097dup, NR_138466.2:n.2093_2097dup, NR_138466.2:n.2092_2097dup, NR_138466.1:n.2134_2142del, NR_138466.1:n.2137_2142del, NR_138466.1:n.2138_2142del, NR_138466.1:n.2139_2142del, NR_138466.1:n.2140_2142del, NR_138466.1:n.2141_2142del, NR_138466.1:n.2142del, NR_138466.1:n.2142dup, NR_138466.1:n.2141_2142dup, NR_138466.1:n.2140_2142dup, NR_138466.1:n.2139_2142dup, NR_138466.1:n.2138_2142dup, NR_138466.1:n.2137_2142dup, XR_007071512.1:n.8878_8886del, XR_007071512.1:n.8881_8886del, XR_007071512.1:n.8882_8886del, XR_007071512.1:n.8883_8886del, XR_007071512.1:n.8884_8886del, XR_007071512.1:n.8885_8886del, XR_007071512.1:n.8886del, XR_007071512.1:n.8886dup, XR_007071512.1:n.8885_8886dup, XR_007071512.1:n.8884_8886dup, XR_007071512.1:n.8883_8886dup, XR_007071512.1:n.8882_8886dup, XR_007071512.1:n.8881_8886dup, XM_047443886.1:c.*3431_*3439del, XM_047443886.1:c.*3434_*3439del, XM_047443886.1:c.*3435_*3439del, XM_047443886.1:c.*3436_*3439del, XM_047443886.1:c.*3437_*3439del, XM_047443886.1:c.*3438_*3439del, XM_047443886.1:c.*3439del, XM_047443886.1:c.*3439dup, XM_047443886.1:c.*3438_*3439dup, XM_047443886.1:c.*3437_*3439dup, XM_047443886.1:c.*3436_*3439dup, XM_047443886.1:c.*3435_*3439dup, XM_047443886.1:c.*3434_*3439dup, XM_047443887.1:c.*3431_*3439del, XM_047443887.1:c.*3434_*3439del, XM_047443887.1:c.*3435_*3439del, XM_047443887.1:c.*3436_*3439del, XM_047443887.1:c.*3437_*3439del, XM_047443887.1:c.*3438_*3439del, XM_047443887.1:c.*3439del, XM_047443887.1:c.*3439dup, XM_047443887.1:c.*3438_*3439dup, XM_047443887.1:c.*3437_*3439dup, XM_047443887.1:c.*3436_*3439dup, XM_047443887.1:c.*3435_*3439dup, XM_047443887.1:c.*3434_*3439dup, XM_047443889.1:c.*3431_*3439del, XM_047443889.1:c.*3434_*3439del, XM_047443889.1:c.*3435_*3439del, XM_047443889.1:c.*3436_*3439del, XM_047443889.1:c.*3437_*3439del, XM_047443889.1:c.*3438_*3439del, XM_047443889.1:c.*3439del, XM_047443889.1:c.*3439dup, XM_047443889.1:c.*3438_*3439dup, XM_047443889.1:c.*3437_*3439dup, XM_047443889.1:c.*3436_*3439dup, XM_047443889.1:c.*3435_*3439dup, XM_047443889.1:c.*3434_*3439dup, XM_047443885.1:c.*3431_*3439del, XM_047443885.1:c.*3434_*3439del, XM_047443885.1:c.*3435_*3439del, XM_047443885.1:c.*3436_*3439del, XM_047443885.1:c.*3437_*3439del, XM_047443885.1:c.*3438_*3439del, XM_047443885.1:c.*3439del, XM_047443885.1:c.*3439dup, XM_047443885.1:c.*3438_*3439dup, XM_047443885.1:c.*3437_*3439dup, XM_047443885.1:c.*3436_*3439dup, XM_047443885.1:c.*3435_*3439dup, XM_047443885.1:c.*3434_*3439dup, XM_047443888.1:c.*3431_*3439del, XM_047443888.1:c.*3434_*3439del, XM_047443888.1:c.*3435_*3439del, XM_047443888.1:c.*3436_*3439del, XM_047443888.1:c.*3437_*3439del, XM_047443888.1:c.*3438_*3439del, XM_047443888.1:c.*3439del, XM_047443888.1:c.*3439dup, XM_047443888.1:c.*3438_*3439dup, XM_047443888.1:c.*3437_*3439dup, XM_047443888.1:c.*3436_*3439dup, XM_047443888.1:c.*3435_*3439dup, XM_047443888.1:c.*3434_*3439dup

              7.

              rs1491415759 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                CA>- [Show Flanks]
                Chromosome:
                2:241056060 (GRCh38)
                2:241995477 (GRCh37)
                Canonical SPDI:
                NC_000002.12:241056056:ACACA:ACA
                Gene:
                SNED1 (Varview), MTERF4 (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                ACA=0.000071/1 (ALFA)
                -=0.000004/1 (TOPMED)
                -=0.000007/1 (GnomAD)
                HGVS:

                8.

                rs1491410767 has merged into rs71404676 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TTTTTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                  Chromosome:
                  2:241026019 (GRCh38)
                  2:241965436 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241026009:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                  Gene:
                  SNED1 (Varview), SNED1-AS1 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTTTTT=0./0 (ALFA)
                  HGVS:
                  NC_000002.12:g.241026019_241026033del, NC_000002.12:g.241026021_241026033del, NC_000002.12:g.241026023_241026033del, NC_000002.12:g.241026024_241026033del, NC_000002.12:g.241026025_241026033del, NC_000002.12:g.241026026_241026033del, NC_000002.12:g.241026027_241026033del, NC_000002.12:g.241026028_241026033del, NC_000002.12:g.241026029_241026033del, NC_000002.12:g.241026030_241026033del, NC_000002.12:g.241026031_241026033del, NC_000002.12:g.241026032_241026033del, NC_000002.12:g.241026033del, NC_000002.12:g.241026033dup, NC_000002.12:g.241026032_241026033dup, NC_000002.12:g.241026031_241026033dup, NC_000002.12:g.241026030_241026033dup, NC_000002.12:g.241026010_241026033T[28]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.241026029_241026033dup, NC_000002.12:g.241026028_241026033dup, NC_000002.12:g.241026027_241026033dup, NC_000002.12:g.241026026_241026033dup, NC_000002.12:g.241026025_241026033dup, NC_000002.12:g.241026024_241026033dup, NC_000002.12:g.241026023_241026033dup, NC_000002.12:g.241026022_241026033dup, NC_000002.12:g.241026021_241026033dup, NC_000002.12:g.241026020_241026033dup, NC_000002.12:g.241026019_241026033dup, NC_000002.12:g.241026018_241026033dup, NC_000002.12:g.241026017_241026033dup, NC_000002.12:g.241026016_241026033dup, NC_000002.12:g.241026015_241026033dup, NC_000002.12:g.241026014_241026033dup, NC_000002.12:g.241026013_241026033dup, NC_000002.12:g.241026012_241026033dup, NC_000002.12:g.241026011_241026033dup, NC_000002.12:g.241026010_241026033dup, NC_000002.12:g.241026033_241026034insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.241026033_241026034insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.241026033_241026034insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.241026033_241026034insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.241026033_241026034insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.241026033_241026034insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.241026033_241026034insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.241965436_241965450del, NC_000002.11:g.241965438_241965450del, NC_000002.11:g.241965440_241965450del, NC_000002.11:g.241965441_241965450del, NC_000002.11:g.241965442_241965450del, NC_000002.11:g.241965443_241965450del, NC_000002.11:g.241965444_241965450del, NC_000002.11:g.241965445_241965450del, NC_000002.11:g.241965446_241965450del, NC_000002.11:g.241965447_241965450del, NC_000002.11:g.241965448_241965450del, NC_000002.11:g.241965449_241965450del, NC_000002.11:g.241965450del, NC_000002.11:g.241965450dup, NC_000002.11:g.241965449_241965450dup, NC_000002.11:g.241965448_241965450dup, NC_000002.11:g.241965447_241965450dup, NC_000002.11:g.241965427_241965450T[28]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.241965446_241965450dup, NC_000002.11:g.241965445_241965450dup, NC_000002.11:g.241965444_241965450dup, NC_000002.11:g.241965443_241965450dup, NC_000002.11:g.241965442_241965450dup, NC_000002.11:g.241965441_241965450dup, NC_000002.11:g.241965440_241965450dup, NC_000002.11:g.241965439_241965450dup, NC_000002.11:g.241965438_241965450dup, NC_000002.11:g.241965437_241965450dup, NC_000002.11:g.241965436_241965450dup, NC_000002.11:g.241965435_241965450dup, NC_000002.11:g.241965434_241965450dup, NC_000002.11:g.241965433_241965450dup, NC_000002.11:g.241965432_241965450dup, NC_000002.11:g.241965431_241965450dup, NC_000002.11:g.241965430_241965450dup, NC_000002.11:g.241965429_241965450dup, NC_000002.11:g.241965428_241965450dup, NC_000002.11:g.241965427_241965450dup, NC_000002.11:g.241965450_241965451insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.241965450_241965451insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.241965450_241965451insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.241965450_241965451insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.241965450_241965451insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.241965450_241965451insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.241965450_241965451insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

                  9.

                  rs1491387361 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->ATT [Show Flanks]
                    Chromosome:
                    2:241024236 (GRCh38)
                    2:241963654 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:241024236:TT:TTATT
                    Gene:
                    SNED1 (Varview), SNED1-AS1 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTATT=0.00051/6 (ALFA)
                    TTA=0.0058/186 (GnomAD)
                    HGVS:

                    10.

                    rs1491357915 [Homo sapiens]
                      Variant type:
                      INS
                      Alleles:
                      ->A,T [Show Flanks]
                      Chromosome:
                      2:241095061 (GRCh38)
                      2:242034477 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:241095061::A,NC_000002.12:241095061::T
                      Gene:
                      SNED1 (Varview), MTERF4 (Varview)
                      Functional Consequence:
                      intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      NC_000002.12:g.241095061_241095062insA, NC_000002.12:g.241095061_241095062insT, NC_000002.11:g.242034476_242034477insA, NC_000002.11:g.242034476_242034477insT, NM_001080437.3:c.*3425_*3426insA, NM_001080437.3:c.*3425_*3426insT, NM_001080437.2:c.*3425_*3426insA, NM_001080437.2:c.*3425_*3426insT, XM_011510931.3:c.*3425_*3426insA, XM_011510931.3:c.*3425_*3426insT, XM_011510931.2:c.*3425_*3426insA, XM_011510931.2:c.*3425_*3426insT, XM_011510932.3:c.*3425_*3426insA, XM_011510932.3:c.*3425_*3426insT, XM_011510932.2:c.*3425_*3426insA, XM_011510932.2:c.*3425_*3426insT, XR_002959260.2:n.8928_8929insA, XR_002959260.2:n.8928_8929insT, XR_002959260.1:n.8572_8573insA, XR_002959260.1:n.8572_8573insT, XR_002959255.2:n.8776_8777insA, XR_002959255.2:n.8776_8777insT, XR_002959255.1:n.8640_8641insA, XR_002959255.1:n.8640_8641insT, XR_002959254.2:n.8636_8637insA, XR_002959254.2:n.8636_8637insT, XR_002959254.1:n.8872_8873insA, XR_002959254.1:n.8872_8873insT, XR_002959256.2:n.8537_8538insA, XR_002959256.2:n.8537_8538insT, XR_002959256.1:n.8774_8775insA, XR_002959256.1:n.8774_8775insT, XR_002959257.2:n.8522_8523insA, XR_002959257.2:n.8522_8523insT, XR_002959257.1:n.8758_8759insA, XR_002959257.1:n.8758_8759insT, XR_002959262.2:n.8484_8485insA, XR_002959262.2:n.8484_8485insT, XR_002959262.1:n.8404_8405insA, XR_002959262.1:n.8404_8405insT, XR_002959258.2:n.8408_8409insA, XR_002959258.2:n.8408_8409insT, XR_002959258.1:n.8648_8649insA, XR_002959258.1:n.8648_8649insT, XR_002959263.2:n.7704_7705insA, XR_002959263.2:n.7704_7705insT, XR_002959263.1:n.7767_7768insA, XR_002959263.1:n.7767_7768insT, NR_138463.2:n.2096_2097insT, NR_138463.2:n.2096_2097insA, NR_138463.1:n.2141_2142insT, NR_138463.1:n.2141_2142insA, NR_138466.2:n.2096_2097insT, NR_138466.2:n.2096_2097insA, NR_138466.1:n.2141_2142insT, NR_138466.1:n.2141_2142insA, XR_007071512.1:n.8872_8873insA, XR_007071512.1:n.8872_8873insT, XM_047443886.1:c.*3425_*3426insA, XM_047443886.1:c.*3425_*3426insT, XM_047443887.1:c.*3425_*3426insA, XM_047443887.1:c.*3425_*3426insT, XM_047443889.1:c.*3425_*3426insA, XM_047443889.1:c.*3425_*3426insT, XM_047443885.1:c.*3425_*3426insA, XM_047443885.1:c.*3425_*3426insT, XM_047443888.1:c.*3425_*3426insA, XM_047443888.1:c.*3425_*3426insT

                      11.

                      rs1491335879 [Homo sapiens]
                        Variant type:
                        SNV:
                        Alleles:
                        ->TTTTTCTTTTTTTTTTTTTTTTTTTTTTT
                        Chromosome:
                        no mapping
                        Canonical SPDI:

                        12.

                        rs1491248012 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          GG>- [Show Flanks]
                          Chromosome:
                          2:241050829 (GRCh38)
                          2:241990246 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:241050828:GG:
                          Gene:
                          SNED1 (Varview), MTERF4 (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          -=0.0086/32 (TWINSUK)
                          -=0.0138/53 (ALSPAC)
                          HGVS:

                          13.

                          rs1491238213 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->A,AA [Show Flanks]
                            Chromosome:
                            2:241095075 (GRCh38)
                            2:242034491 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:241095075:A:AA,NC_000002.12:241095075:A:AAA
                            Gene:
                            SNED1 (Varview), MTERF4 (Varview)
                            Functional Consequence:
                            intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AA=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            AA=0.000036/1 (TOMMO)
                            HGVS:
                            NC_000002.12:g.241095076dup, NC_000002.12:g.241095076_241095077insAA, NC_000002.11:g.242034491dup, NC_000002.11:g.242034491_242034492insAA, NM_001080437.3:c.*3440dup, NM_001080437.3:c.*3440_*3441insAA, NM_001080437.2:c.*3440dup, NM_001080437.2:c.*3440_*3441insAA, XM_011510931.3:c.*3440dup, XM_011510931.3:c.*3440_*3441insAA, XM_011510931.2:c.*3440dup, XM_011510931.2:c.*3440_*3441insAA, XM_011510932.3:c.*3440dup, XM_011510932.3:c.*3440_*3441insAA, XM_011510932.2:c.*3440dup, XM_011510932.2:c.*3440_*3441insAA, XR_002959260.2:n.8943dup, XR_002959260.2:n.8943_8944insAA, XR_002959260.1:n.8587dup, XR_002959260.1:n.8587_8588insAA, XR_002959255.2:n.8791dup, XR_002959255.2:n.8791_8792insAA, XR_002959255.1:n.8655dup, XR_002959255.1:n.8655_8656insAA, XR_002959254.2:n.8651dup, XR_002959254.2:n.8651_8652insAA, XR_002959254.1:n.8887dup, XR_002959254.1:n.8887_8888insAA, XR_002959256.2:n.8552dup, XR_002959256.2:n.8552_8553insAA, XR_002959256.1:n.8789dup, XR_002959256.1:n.8789_8790insAA, XR_002959257.2:n.8537dup, XR_002959257.2:n.8537_8538insAA, XR_002959257.1:n.8773dup, XR_002959257.1:n.8773_8774insAA, XR_002959262.2:n.8499dup, XR_002959262.2:n.8499_8500insAA, XR_002959262.1:n.8419dup, XR_002959262.1:n.8419_8420insAA, XR_002959258.2:n.8423dup, XR_002959258.2:n.8423_8424insAA, XR_002959258.1:n.8663dup, XR_002959258.1:n.8663_8664insAA, XR_002959263.2:n.7719dup, XR_002959263.2:n.7719_7720insAA, XR_002959263.1:n.7782dup, XR_002959263.1:n.7782_7783insAA, NR_138463.2:n.2082dup, NR_138463.2:n.2082_2083insTT, NR_138463.1:n.2127dup, NR_138463.1:n.2127_2128insTT, NR_138466.2:n.2082dup, NR_138466.2:n.2082_2083insTT, NR_138466.1:n.2127dup, NR_138466.1:n.2127_2128insTT, XR_007071512.1:n.8887dup, XR_007071512.1:n.8887_8888insAA, XM_047443886.1:c.*3440dup, XM_047443886.1:c.*3440_*3441insAA, XM_047443887.1:c.*3440dup, XM_047443887.1:c.*3440_*3441insAA, XM_047443889.1:c.*3440dup, XM_047443889.1:c.*3440_*3441insAA, XM_047443885.1:c.*3440dup, XM_047443885.1:c.*3440_*3441insAA, XM_047443888.1:c.*3440dup, XM_047443888.1:c.*3440_*3441insAA

                            14.

                            rs1491209921 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AC>-,ACAC [Show Flanks]
                              Chromosome:
                              2:241095078 (GRCh38)
                              2:242034493 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:241095074:CACAC:CAC,NC_000002.12:241095074:CACAC:CACACAC
                              Gene:
                              SNED1 (Varview), MTERF4 (Varview)
                              Functional Consequence:
                              intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              CAC=0.004333/69 (ALFA)
                              CA=0.000008/1 (GnomAD)
                              -=0.000249/4 (TOMMO)
                              HGVS:
                              NC_000002.12:g.241095076AC[1], NC_000002.12:g.241095076AC[3], NC_000002.11:g.242034491AC[1], NC_000002.11:g.242034491AC[3], NM_001080437.3:c.*3440AC[1], NM_001080437.3:c.*3440AC[3], NM_001080437.2:c.*3440AC[1], NM_001080437.2:c.*3440AC[3], XM_011510931.3:c.*3440AC[1], XM_011510931.3:c.*3440AC[3], XM_011510931.2:c.*3440AC[1], XM_011510931.2:c.*3440AC[3], XM_011510932.3:c.*3440AC[1], XM_011510932.3:c.*3440AC[3], XM_011510932.2:c.*3440AC[1], XM_011510932.2:c.*3440AC[3], XR_002959260.2:n.8943AC[1], XR_002959260.2:n.8943AC[3], XR_002959260.1:n.8587AC[1], XR_002959260.1:n.8587AC[3], XR_002959255.2:n.8791AC[1], XR_002959255.2:n.8791AC[3], XR_002959255.1:n.8655AC[1], XR_002959255.1:n.8655AC[3], XR_002959254.2:n.8651AC[1], XR_002959254.2:n.8651AC[3], XR_002959254.1:n.8887AC[1], XR_002959254.1:n.8887AC[3], XR_002959256.2:n.8552AC[1], XR_002959256.2:n.8552AC[3], XR_002959256.1:n.8789AC[1], XR_002959256.1:n.8789AC[3], XR_002959257.2:n.8537AC[1], XR_002959257.2:n.8537AC[3], XR_002959257.1:n.8773AC[1], XR_002959257.1:n.8773AC[3], XR_002959262.2:n.8499AC[1], XR_002959262.2:n.8499AC[3], XR_002959262.1:n.8419AC[1], XR_002959262.1:n.8419AC[3], XR_002959258.2:n.8423AC[1], XR_002959258.2:n.8423AC[3], XR_002959258.1:n.8663AC[1], XR_002959258.1:n.8663AC[3], XR_002959263.2:n.7719AC[1], XR_002959263.2:n.7719AC[3], XR_002959263.1:n.7782AC[1], XR_002959263.1:n.7782AC[3], NR_138463.2:n.2080TG[1], NR_138463.2:n.2080TG[3], NR_138463.1:n.2125TG[1], NR_138463.1:n.2125TG[3], NR_138466.2:n.2080TG[1], NR_138466.2:n.2080TG[3], NR_138466.1:n.2125TG[1], NR_138466.1:n.2125TG[3], XR_007071512.1:n.8887AC[1], XR_007071512.1:n.8887AC[3], XM_047443886.1:c.*3440AC[1], XM_047443886.1:c.*3440AC[3], XM_047443887.1:c.*3440AC[1], XM_047443887.1:c.*3440AC[3], XM_047443889.1:c.*3440AC[1], XM_047443889.1:c.*3440AC[3], XM_047443885.1:c.*3440AC[1], XM_047443885.1:c.*3440AC[3], XM_047443888.1:c.*3440AC[1], XM_047443888.1:c.*3440AC[3]

                              15.

                              rs1491193273 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                GT>- [Show Flanks]
                                Chromosome:
                                2:241047170 (GRCh38)
                                2:241986587 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:241047169:GT:
                                Gene:
                                SNED1 (Varview), MTERF4 (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                -=0.04493/533 (ALFA)
                                -=0.00593/74 (TOMMO)
                                -=0.01275/800 (GnomAD)
                                -=0.02622/15 (NorthernSweden)
                                HGVS:

                                16.

                                rs1491104364 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  AG>- [Show Flanks]
                                  Chromosome:
                                  2:241039426 (GRCh38)
                                  2:241978843 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:241039425:AG:
                                  Gene:
                                  SNED1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  -=0./0 (ALFA)
                                  -=0.000008/2 (TOPMED)
                                  -=0.000014/2 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1491094129 has merged into rs772995766 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                    Chromosome:
                                    2:241085870 (GRCh38)
                                    2:242025285 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:241085860:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:241085860:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:241085860:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:241085860:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:241085860:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:241085860:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:241085860:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:241085860:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:241085860:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:241085860:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:241085860:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241085860:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241085860:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241085860:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241085860:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241085860:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241085860:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241085860:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241085860:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241085860:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241085860:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241085860:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241085860:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241085860:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241085860:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241085860:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241085860:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241085860:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241085860:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241085860:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                    Gene:
                                    SNED1 (Varview), MTERF4 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TTTTTTTTTT=0./0 (ALFA)
                                    TTTTTTTTTTT=0./0 (GENOME_DK)
                                    HGVS:
                                    NC_000002.12:g.241085870_241085884del, NC_000002.12:g.241085871_241085884del, NC_000002.12:g.241085872_241085884del, NC_000002.12:g.241085873_241085884del, NC_000002.12:g.241085874_241085884del, NC_000002.12:g.241085875_241085884del, NC_000002.12:g.241085877_241085884del, NC_000002.12:g.241085878_241085884del, NC_000002.12:g.241085879_241085884del, NC_000002.12:g.241085880_241085884del, NC_000002.12:g.241085882_241085884del, NC_000002.12:g.241085883_241085884del, NC_000002.12:g.241085884del, NC_000002.12:g.241085884dup, NC_000002.12:g.241085883_241085884dup, NC_000002.12:g.241085882_241085884dup, NC_000002.12:g.241085881_241085884dup, NC_000002.12:g.241085880_241085884dup, NC_000002.12:g.241085879_241085884dup, NC_000002.12:g.241085878_241085884dup, NC_000002.12:g.241085877_241085884dup, NC_000002.12:g.241085876_241085884dup, NC_000002.12:g.241085875_241085884dup, NC_000002.12:g.241085874_241085884dup, NC_000002.12:g.241085873_241085884dup, NC_000002.12:g.241085872_241085884dup, NC_000002.12:g.241085871_241085884dup, NC_000002.12:g.241085870_241085884dup, NC_000002.12:g.241085869_241085884dup, NC_000002.12:g.241085884_241085885insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.242025285_242025299del, NC_000002.11:g.242025286_242025299del, NC_000002.11:g.242025287_242025299del, NC_000002.11:g.242025288_242025299del, NC_000002.11:g.242025289_242025299del, NC_000002.11:g.242025290_242025299del, NC_000002.11:g.242025292_242025299del, NC_000002.11:g.242025293_242025299del, NC_000002.11:g.242025294_242025299del, NC_000002.11:g.242025295_242025299del, NC_000002.11:g.242025297_242025299del, NC_000002.11:g.242025298_242025299del, NC_000002.11:g.242025299del, NC_000002.11:g.242025299dup, NC_000002.11:g.242025298_242025299dup, NC_000002.11:g.242025297_242025299dup, NC_000002.11:g.242025296_242025299dup, NC_000002.11:g.242025295_242025299dup, NC_000002.11:g.242025294_242025299dup, NC_000002.11:g.242025293_242025299dup, NC_000002.11:g.242025292_242025299dup, NC_000002.11:g.242025291_242025299dup, NC_000002.11:g.242025290_242025299dup, NC_000002.11:g.242025289_242025299dup, NC_000002.11:g.242025288_242025299dup, NC_000002.11:g.242025287_242025299dup, NC_000002.11:g.242025286_242025299dup, NC_000002.11:g.242025285_242025299dup, NC_000002.11:g.242025284_242025299dup, NC_000002.11:g.242025299_242025300insTTTTTTTTTTTTTTTTTTTTTTTTTTT

                                    18.

                                    rs1491088666 has merged into rs34234341 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTATTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                      Chromosome:
                                      2:241023898 (GRCh38)
                                      2:241963315 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:241023888:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                      Gene:
                                      SNED1 (Varview), SNED1-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TTTTTTTTT=0./0 (ALFA)
                                      HGVS:
                                      NC_000002.12:g.241023898_241023907del, NC_000002.12:g.241023899_241023907del, NC_000002.12:g.241023900_241023907del, NC_000002.12:g.241023902_241023907del, NC_000002.12:g.241023903_241023907del, NC_000002.12:g.241023904_241023907del, NC_000002.12:g.241023905_241023907del, NC_000002.12:g.241023906_241023907del, NC_000002.12:g.241023907del, NC_000002.12:g.241023907dup, NC_000002.12:g.241023906_241023907dup, NC_000002.12:g.241023905_241023907dup, NC_000002.12:g.241023904_241023907dup, NC_000002.12:g.241023903_241023907dup, NC_000002.12:g.241023889_241023907T[24]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.241023902_241023907dup, NC_000002.12:g.241023901_241023907dup, NC_000002.12:g.241023889_241023907T[26]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.241023900_241023907dup, NC_000002.12:g.241023889_241023907T[27]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.241023899_241023907dup, NC_000002.12:g.241023898_241023907dup, NC_000002.12:g.241023897_241023907dup, NC_000002.12:g.241023889_241023907T[30]CTTTTTTTTTTTTTTTTT[2]T[6], NC_000002.12:g.241023889_241023907T[30]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.241023896_241023907dup, NC_000002.12:g.241023889_241023907T[31]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.241023895_241023907dup, NC_000002.12:g.241023889_241023907T[32]CTTTTTTTTT[2]T[14], NC_000002.12:g.241023889_241023907T[32]CTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.241023889_241023907T[32]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.241023894_241023907dup, NC_000002.12:g.241023889_241023907T[33]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.241023889_241023907T[33]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.241023889_241023907T[33]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.241023893_241023907dup, NC_000002.12:g.241023889_241023907T[34]ATTCTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.241023892_241023907dup, NC_000002.12:g.241023891_241023907dup, NC_000002.12:g.241023889_241023907T[36]CTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.241023890_241023907dup, NC_000002.12:g.241023889_241023907dup, NC_000002.12:g.241023907_241023908insTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.241023907_241023908insTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.241023907_241023908insTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.241023907_241023908insTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.241023907_241023908insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.241023907_241023908insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.241023907_241023908insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.241023907_241023908insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.241023907_241023908insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.241023907_241023908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.241023907_241023908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.241023907_241023908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.241023907_241023908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.241023907_241023908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.241023907_241023908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.241023907_241023908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.241023907_241023908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.241023907_241023908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.241963315_241963324del, NC_000002.11:g.241963316_241963324del, NC_000002.11:g.241963317_241963324del, NC_000002.11:g.241963319_241963324del, NC_000002.11:g.241963320_241963324del, NC_000002.11:g.241963321_241963324del, NC_000002.11:g.241963322_241963324del, NC_000002.11:g.241963323_241963324del, NC_000002.11:g.241963324del, NC_000002.11:g.241963324dup, NC_000002.11:g.241963323_241963324dup, NC_000002.11:g.241963322_241963324dup, NC_000002.11:g.241963321_241963324dup, NC_000002.11:g.241963320_241963324dup, NC_000002.11:g.241963306_241963324T[24]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.241963319_241963324dup, NC_000002.11:g.241963318_241963324dup, NC_000002.11:g.241963306_241963324T[26]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.241963317_241963324dup, NC_000002.11:g.241963306_241963324T[27]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.241963316_241963324dup, NC_000002.11:g.241963315_241963324dup, NC_000002.11:g.241963314_241963324dup, NC_000002.11:g.241963306_241963324T[30]CTTTTTTTTTTTTTTTTT[2]T[6], NC_000002.11:g.241963306_241963324T[30]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.241963313_241963324dup, NC_000002.11:g.241963306_241963324T[31]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.241963312_241963324dup, NC_000002.11:g.241963306_241963324T[32]CTTTTTTTTT[2]T[14], NC_000002.11:g.241963306_241963324T[32]CTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.241963306_241963324T[32]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.241963311_241963324dup, NC_000002.11:g.241963306_241963324T[33]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.241963306_241963324T[33]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.241963306_241963324T[33]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.241963310_241963324dup, NC_000002.11:g.241963306_241963324T[34]ATTCTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.241963309_241963324dup, NC_000002.11:g.241963308_241963324dup, NC_000002.11:g.241963306_241963324T[36]CTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.241963307_241963324dup, NC_000002.11:g.241963306_241963324dup, NC_000002.11:g.241963324_241963325insTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.241963324_241963325insTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.241963324_241963325insTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.241963324_241963325insTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.241963324_241963325insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.241963324_241963325insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.241963324_241963325insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.241963324_241963325insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.241963324_241963325insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.241963324_241963325insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.241963324_241963325insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.241963324_241963325insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.241963324_241963325insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.241963324_241963325insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.241963324_241963325insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.241963324_241963325insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.241963324_241963325insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.241963324_241963325insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

                                      19.

                                      rs1491084791 [Homo sapiens]
                                        Variant type:
                                        INS
                                        Alleles:
                                        ->A,G [Show Flanks]
                                        Chromosome:
                                        2:241095062 (GRCh38)
                                        2:242034478 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:241095062::A,NC_000002.12:241095062::G
                                        Gene:
                                        SNED1 (Varview), MTERF4 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        A=0./0 (GnomAD)
                                        G=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000002.12:g.241095062_241095063insA, NC_000002.12:g.241095062_241095063insG, NC_000002.11:g.242034477_242034478insA, NC_000002.11:g.242034477_242034478insG, NM_001080437.3:c.*3426_*3427insA, NM_001080437.3:c.*3426_*3427insG, NM_001080437.2:c.*3426_*3427insA, NM_001080437.2:c.*3426_*3427insG, XM_011510931.3:c.*3426_*3427insA, XM_011510931.3:c.*3426_*3427insG, XM_011510931.2:c.*3426_*3427insA, XM_011510931.2:c.*3426_*3427insG, XM_011510932.3:c.*3426_*3427insA, XM_011510932.3:c.*3426_*3427insG, XM_011510932.2:c.*3426_*3427insA, XM_011510932.2:c.*3426_*3427insG, XR_002959260.2:n.8929_8930insA, XR_002959260.2:n.8929_8930insG, XR_002959260.1:n.8573_8574insA, XR_002959260.1:n.8573_8574insG, XR_002959255.2:n.8777_8778insA, XR_002959255.2:n.8777_8778insG, XR_002959255.1:n.8641_8642insA, XR_002959255.1:n.8641_8642insG, XR_002959254.2:n.8637_8638insA, XR_002959254.2:n.8637_8638insG, XR_002959254.1:n.8873_8874insA, XR_002959254.1:n.8873_8874insG, XR_002959256.2:n.8538_8539insA, XR_002959256.2:n.8538_8539insG, XR_002959256.1:n.8775_8776insA, XR_002959256.1:n.8775_8776insG, XR_002959257.2:n.8523_8524insA, XR_002959257.2:n.8523_8524insG, XR_002959257.1:n.8759_8760insA, XR_002959257.1:n.8759_8760insG, XR_002959262.2:n.8485_8486insA, XR_002959262.2:n.8485_8486insG, XR_002959262.1:n.8405_8406insA, XR_002959262.1:n.8405_8406insG, XR_002959258.2:n.8409_8410insA, XR_002959258.2:n.8409_8410insG, XR_002959258.1:n.8649_8650insA, XR_002959258.1:n.8649_8650insG, XR_002959263.2:n.7705_7706insA, XR_002959263.2:n.7705_7706insG, XR_002959263.1:n.7768_7769insA, XR_002959263.1:n.7768_7769insG, NR_138463.2:n.2095_2096insT, NR_138463.2:n.2095_2096insC, NR_138463.1:n.2140_2141insT, NR_138463.1:n.2140_2141insC, NR_138466.2:n.2095_2096insT, NR_138466.2:n.2095_2096insC, NR_138466.1:n.2140_2141insT, NR_138466.1:n.2140_2141insC, XR_007071512.1:n.8873_8874insA, XR_007071512.1:n.8873_8874insG, XM_047443886.1:c.*3426_*3427insA, XM_047443886.1:c.*3426_*3427insG, XM_047443887.1:c.*3426_*3427insA, XM_047443887.1:c.*3426_*3427insG, XM_047443889.1:c.*3426_*3427insA, XM_047443889.1:c.*3426_*3427insG, XM_047443885.1:c.*3426_*3427insA, XM_047443885.1:c.*3426_*3427insG, XM_047443888.1:c.*3426_*3427insA, XM_047443888.1:c.*3426_*3427insG

                                        20.

                                        rs1491004089 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          2:241081254 (GRCh38)
                                          2:242020669 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:241081253:A:G
                                          Gene:
                                          SNED1 (Varview), MTERF4 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.000071/1 (ALFA)
                                          G=0.000014/2 (GnomAD)
                                          G=0.000015/4 (TOPMED)
                                          HGVS:

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