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Items: 1 to 20 of 99571

1.

rs1491586596 has merged into rs199622783 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TATA>-,TA,TATATA,TATATACATATATATGTATATAATATATATA [Show Flanks]
    Chromosome:
    21:18248713 (GRCh38)
    21:19621030 (GRCh37)
    Canonical SPDI:
    NC_000021.9:18248709:ATATATA:ATA,NC_000021.9:18248709:ATATATA:ATATA,NC_000021.9:18248709:ATATATA:ATATATATA,NC_000021.9:18248709:ATATATA:ATATATATACATATATATGTATATAATATATATA
    Gene:
    CHODL (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    ATATA=0./0 (ALFA)
    AT=0.01158/58 (1000Genomes)
    HGVS:

    2.

    rs1491578043 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TT>-,T [Show Flanks]
      Chromosome:
      21:18145433 (GRCh38)
      21:19517750 (GRCh37)
      Canonical SPDI:
      NC_000021.9:18145431:TTT:T,NC_000021.9:18145431:TTT:TT
      Gene:
      CHODL (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.00017/2 (ALFA)
      -=0.0001/9 (GnomAD)
      HGVS:

      3.

      rs1491573349 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->ACAA [Show Flanks]
        Chromosome:
        21:18008027 (GRCh38)
        21:19380345 (GRCh37)
        Canonical SPDI:
        NC_000021.9:18008027:AAACAA:AAACAAACAA
        Gene:
        CHODL (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        AAACAAACAA=0.0002/1 (ALFA)
        AAAC=0.0002/1 (Estonian)
        HGVS:

        4.

        rs1491565992 [Homo sapiens]
          Variant type:
          SNV:
          Alleles:
          >
          Chromosome:
          no mapping
          Canonical SPDI:

          5.

          rs1491561159 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->C [Show Flanks]
            Chromosome:
            21:18207658 (GRCh38)
            21:19579976 (GRCh37)
            Canonical SPDI:
            NC_000021.9:18207658:C:CC
            Gene:
            CHODL (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            CC=0./0 (ALFA)
            C=0.0002/7 (GnomAD)
            HGVS:

            6.

            rs1491556737 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->AG [Show Flanks]
              Chromosome:
              21:18215211 (GRCh38)
              21:19587529 (GRCh37)
              Canonical SPDI:
              NC_000021.9:18215211:AG:AGAG
              Gene:
              CHODL (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AGAG=0./0 (ALFA)
              AG=0.000029/4 (GnomAD)
              HGVS:

              7.

              rs1491554585 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                AG>- [Show Flanks]
                Chromosome:
                21:18084920 (GRCh38)
                21:19457238 (GRCh37)
                Canonical SPDI:
                NC_000021.9:18084919:AG:
                Gene:
                CHODL (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                -=0.001/14 (ALFA)
                -=0.000177/3 (TOMMO)
                -=0.003031/357 (GnomAD)
                HGVS:

                8.

                rs1491537898 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  AT>- [Show Flanks]
                  Chromosome:
                  21:18188109 (GRCh38)
                  21:19560426 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:18188108:AT:
                  Gene:
                  CHODL (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0./0 (ALFA)
                  -=0.000014/2 (GnomAD)
                  -=0.000026/7 (TOPMED)
                  HGVS:

                  9.

                  rs1491511249 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->C [Show Flanks]
                    Chromosome:
                    21:18250317 (GRCh38)
                    21:19622635 (GRCh37)
                    Canonical SPDI:
                    NC_000021.9:18250317::C
                    Gene:
                    CHODL (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:

                    10.

                    rs1491509503 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TA>- [Show Flanks]
                      Chromosome:
                      21:17851945 (GRCh38)
                      21:19224262 (GRCh37)
                      Canonical SPDI:
                      NC_000021.9:17851943:ATA:A
                      Gene:
                      CHODL-AS1 (Varview), LOC124900465 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000427/6 (ALFA)
                      -=0.000952/132 (GnomAD)
                      -=0.001504/398 (TOPMED)
                      -=0.001672/1 (NorthernSweden)
                      -=0.006871/44 (1000Genomes)
                      -=0.012022/22 (Korea1K)
                      -=0.012563/210 (TOMMO)
                      HGVS:

                      11.

                      rs1491493925 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->TT [Show Flanks]
                        Chromosome:
                        21:18232943 (GRCh38)
                        21:19605261 (GRCh37)
                        Canonical SPDI:
                        NC_000021.9:18232943:T:TTT
                        Gene:
                        CHODL (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TTT=0./0 (ALFA)
                        TT=0.00019/6 (GnomAD)
                        HGVS:

                        12.

                        rs1491492426 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->AT [Show Flanks]
                          Chromosome:
                          21:18153746 (GRCh38)
                          21:19526064 (GRCh37)
                          Canonical SPDI:
                          NC_000021.9:18153746:T:TAT
                          Gene:
                          CHODL (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          TAT=0./0 (ALFA)
                          HGVS:

                          13.

                          rs1491490407 has merged into rs58978469 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            CTCTCTCTCTCT>-,CT,CTCT,CTCTCT,CTCTCTCT,CTCTCTCTCT,CTCTCTCTCTCTCT,CTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCT [Show Flanks]
                            Chromosome:
                            21:18162425 (GRCh38)
                            21:19534742 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCT,NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT,NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT,NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT,NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
                            Gene:
                            CHODL (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TCTCTCTCTCTCTCT=0./0 (ALFA)
                            TCTCTCTCTC=0.003075/814 (TOPMED)
                            TCTC=0.128594/644 (1000Genomes)
                            HGVS:
                            NC_000021.9:g.18162413CT[6], NC_000021.9:g.18162413CT[7], NC_000021.9:g.18162413CT[8], NC_000021.9:g.18162413CT[9], NC_000021.9:g.18162413CT[10], NC_000021.9:g.18162413CT[11], NC_000021.9:g.18162413CT[13], NC_000021.9:g.18162413CT[14], NC_000021.9:g.18162413CT[15], NC_000021.9:g.18162413CT[16], NC_000021.9:g.18162413CT[17], NC_000021.9:g.18162413CT[18], NC_000021.9:g.18162413CT[19], NC_000021.8:g.19534730CT[6], NC_000021.8:g.19534730CT[7], NC_000021.8:g.19534730CT[8], NC_000021.8:g.19534730CT[9], NC_000021.8:g.19534730CT[10], NC_000021.8:g.19534730CT[11], NC_000021.8:g.19534730CT[13], NC_000021.8:g.19534730CT[14], NC_000021.8:g.19534730CT[15], NC_000021.8:g.19534730CT[16], NC_000021.8:g.19534730CT[17], NC_000021.8:g.19534730CT[18], NC_000021.8:g.19534730CT[19], NG_029478.1:g.250074CT[6], NG_029478.1:g.250074CT[7], NG_029478.1:g.250074CT[8], NG_029478.1:g.250074CT[9], NG_029478.1:g.250074CT[10], NG_029478.1:g.250074CT[11], NG_029478.1:g.250074CT[13], NG_029478.1:g.250074CT[14], NG_029478.1:g.250074CT[15], NG_029478.1:g.250074CT[16], NG_029478.1:g.250074CT[17], NG_029478.1:g.250074CT[18], NG_029478.1:g.250074CT[19]

                            14.

                            rs1491485186 [Homo sapiens]
                              Variant type:
                              SNV:
                              Alleles:
                              ->G
                              Chromosome:
                              no mapping
                              Canonical SPDI:

                              15.

                              rs1491483538 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->TATATATATTATATATAATTTACTATATATAATAT [Show Flanks]
                                Chromosome:
                                21:18249031 (GRCh38)
                                21:19621349 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:18249031:TATATATAATATTATATATATTATATATAATTTACTATATATAATAT:TATATATAATATTATATATATTATATATAATTTACTATATATAATATTATATATATTATATATAATTTACTATATATAATAT
                                Gene:
                                CHODL (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                TATATATAATATTATATATATTATATATAATTTAC=0.000174/19 (GnomAD)
                                TATATATAATATTATATATATTATATATAATTTAC=0.000638/11 (TOMMO)
                                HGVS:

                                16.

                                rs1491481991 [Homo sapiens]
                                  Variant type:
                                  SNV:
                                  Alleles:
                                  ->TTTTTTGTTTTTTTTTTTTTTTTT
                                  Chromosome:
                                  no mapping
                                  Canonical SPDI:

                                  17.

                                  rs1491480970 has merged into rs1177005708 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                    Chromosome:
                                    21:18171212 (GRCh38)
                                    21:19543529 (GRCh37)
                                    Canonical SPDI:
                                    NC_000021.9:18171198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000021.9:18171198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000021.9:18171198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000021.9:18171198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000021.9:18171198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000021.9:18171198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000021.9:18171198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000021.9:18171198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:18171198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:18171198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:18171198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:18171198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:18171198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:18171198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:18171198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:18171198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:18171198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:18171198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:18171198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:18171198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:18171198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:18171198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                    Gene:
                                    CHODL (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TTTTTTTTTTTTTT=0./0 (ALFA)
                                    HGVS:
                                    NC_000021.9:g.18171212_18171217del, NC_000021.9:g.18171213_18171217del, NC_000021.9:g.18171214_18171217del, NC_000021.9:g.18171215_18171217del, NC_000021.9:g.18171216_18171217del, NC_000021.9:g.18171217del, NC_000021.9:g.18171217dup, NC_000021.9:g.18171210_18171217dup, NC_000021.9:g.18171209_18171217dup, NC_000021.9:g.18171208_18171217dup, NC_000021.9:g.18171207_18171217dup, NC_000021.9:g.18171206_18171217dup, NC_000021.9:g.18171205_18171217dup, NC_000021.9:g.18171204_18171217dup, NC_000021.9:g.18171203_18171217dup, NC_000021.9:g.18171202_18171217dup, NC_000021.9:g.18171201_18171217dup, NC_000021.9:g.18171200_18171217dup, NC_000021.9:g.18171217_18171218insTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.18171217_18171218insTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.18171217_18171218insTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.18171217_18171218insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.19543529_19543534del, NC_000021.8:g.19543530_19543534del, NC_000021.8:g.19543531_19543534del, NC_000021.8:g.19543532_19543534del, NC_000021.8:g.19543533_19543534del, NC_000021.8:g.19543534del, NC_000021.8:g.19543534dup, NC_000021.8:g.19543527_19543534dup, NC_000021.8:g.19543526_19543534dup, NC_000021.8:g.19543525_19543534dup, NC_000021.8:g.19543524_19543534dup, NC_000021.8:g.19543523_19543534dup, NC_000021.8:g.19543522_19543534dup, NC_000021.8:g.19543521_19543534dup, NC_000021.8:g.19543520_19543534dup, NC_000021.8:g.19543519_19543534dup, NC_000021.8:g.19543518_19543534dup, NC_000021.8:g.19543517_19543534dup, NC_000021.8:g.19543534_19543535insTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.19543534_19543535insTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.19543534_19543535insTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.19543534_19543535insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029478.1:g.258873_258878del, NG_029478.1:g.258874_258878del, NG_029478.1:g.258875_258878del, NG_029478.1:g.258876_258878del, NG_029478.1:g.258877_258878del, NG_029478.1:g.258878del, NG_029478.1:g.258878dup, NG_029478.1:g.258871_258878dup, NG_029478.1:g.258870_258878dup, NG_029478.1:g.258869_258878dup, NG_029478.1:g.258868_258878dup, NG_029478.1:g.258867_258878dup, NG_029478.1:g.258866_258878dup, NG_029478.1:g.258865_258878dup, NG_029478.1:g.258864_258878dup, NG_029478.1:g.258863_258878dup, NG_029478.1:g.258862_258878dup, NG_029478.1:g.258861_258878dup, NG_029478.1:g.258878_258879insTTTTTTTTTTTTTTTTTTTTT, NG_029478.1:g.258878_258879insTTTTTTTTTTTTTTTTTTTTTT, NG_029478.1:g.258878_258879insTTTTTTTTTTTTTTTTTTTTTTT, NG_029478.1:g.258878_258879insTTTTTTTTTTTTTTTTTTTTTTTTTT

                                    18.

                                    rs1491471971 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      TT>- [Show Flanks]
                                      Chromosome:
                                      21:18108837 (GRCh38)
                                      21:19481155 (GRCh37)
                                      Canonical SPDI:
                                      NC_000021.9:18108836:TT:
                                      Gene:
                                      CHODL (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      -=0.003348/61 (ALFA)
                                      -=0.007647/765 (GnomAD)
                                      -=0.025096/419 (TOMMO)
                                      HGVS:

                                      19.

                                      rs1491469712 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->G [Show Flanks]
                                        Chromosome:
                                        21:17976269 (GRCh38)
                                        21:19348587 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:17976269:G:GG
                                        Gene:
                                        CHODL (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        GG=0./0 (ALFA)
                                        G=0.00123/2 (Korea1K)
                                        G=0.00645/105 (TOMMO)
                                        HGVS:

                                        20.

                                        rs1491468643 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->CT [Show Flanks]
                                          Chromosome:
                                          21:18171199 (GRCh38)
                                          21:19543517 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:18171199:T:TCT
                                          Gene:
                                          CHODL (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TCT=0./0 (ALFA)
                                          TC=0.00156/2 (Korea1K)
                                          TC=0.00192/5 (GnomAD)
                                          TC=0.00193/16 (TOMMO)
                                          HGVS:

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