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Items: 1 to 20 of 1574

1.

rs1491456286 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CC>- [Show Flanks]
    Chromosome:
    1:160029776 (GRCh38)
    1:159999566 (GRCh37)
    Canonical SPDI:
    NC_000001.11:160029775:CC:
    Gene:
    PIGM (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    HGVS:
    2.

    rs1491248746 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      1:160029776 (GRCh38)
      1:159999567 (GRCh37)
      Canonical SPDI:
      NC_000001.11:160029776::T,NC_000001.11:160029776::TT,NC_000001.11:160029776::TTT,NC_000001.11:160029776::TTTT,NC_000001.11:160029776::TTTTT,NC_000001.11:160029776::TTTTTT,NC_000001.11:160029776::TTTTTTT,NC_000001.11:160029776::TTTTTTTT,NC_000001.11:160029776::TTTTTTTTT,NC_000001.11:160029776::TTTTTTTTTT,NC_000001.11:160029776::TTTTTTTTTTT,NC_000001.11:160029776::TTTTTTTTTTTT,NC_000001.11:160029776::TTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029776::TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029776::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      PIGM (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TT=0./0 (ALFA)
      T=0.00007/2 (TOMMO)
      HGVS:
      NC_000001.11:g.160029776_160029777insT, NC_000001.11:g.160029776_160029777insTT, NC_000001.11:g.160029776_160029777insTTT, NC_000001.11:g.160029776_160029777insTTTT, NC_000001.11:g.160029776_160029777insTTTTT, NC_000001.11:g.160029776_160029777insTTTTTT, NC_000001.11:g.160029776_160029777insTTTTTTT, NC_000001.11:g.160029776_160029777insTTTTTTTT, NC_000001.11:g.160029776_160029777insTTTTTTTTT, NC_000001.11:g.160029776_160029777insTTTTTTTTTT, NC_000001.11:g.160029776_160029777insTTTTTTTTTTT, NC_000001.11:g.160029776_160029777insTTTTTTTTTTTT, NC_000001.11:g.160029776_160029777insTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.160029776_160029777insTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.160029776_160029777insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.159999566_159999567insT, NC_000001.10:g.159999566_159999567insTT, NC_000001.10:g.159999566_159999567insTTT, NC_000001.10:g.159999566_159999567insTTTT, NC_000001.10:g.159999566_159999567insTTTTT, NC_000001.10:g.159999566_159999567insTTTTTT, NC_000001.10:g.159999566_159999567insTTTTTTT, NC_000001.10:g.159999566_159999567insTTTTTTTT, NC_000001.10:g.159999566_159999567insTTTTTTTTT, NC_000001.10:g.159999566_159999567insTTTTTTTTTT, NC_000001.10:g.159999566_159999567insTTTTTTTTTTT, NC_000001.10:g.159999566_159999567insTTTTTTTTTTTT, NC_000001.10:g.159999566_159999567insTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.159999566_159999567insTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.159999566_159999567insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012238.1:g.7217_7218insA, NG_012238.1:g.7217_7218insAA, NG_012238.1:g.7217_7218insAAA, NG_012238.1:g.7217_7218insAAAA, NG_012238.1:g.7217_7218insAAAAA, NG_012238.1:g.7217_7218insAAAAAA, NG_012238.1:g.7217_7218insAAAAAAA, NG_012238.1:g.7217_7218insAAAAAAAA, NG_012238.1:g.7217_7218insAAAAAAAAA, NG_012238.1:g.7217_7218insAAAAAAAAAA, NG_012238.1:g.7217_7218insAAAAAAAAAAA, NG_012238.1:g.7217_7218insAAAAAAAAAAAA, NG_012238.1:g.7217_7218insAAAAAAAAAAAAAAAAAAAA, NG_012238.1:g.7217_7218insAAAAAAAAAAAAAAAAAAAAAAA, NG_012238.1:g.7217_7218insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_145167.2:c.*691_*692insA, NM_145167.2:c.*691_*692insAA, NM_145167.2:c.*691_*692insAAA, NM_145167.2:c.*691_*692insAAAA, NM_145167.2:c.*691_*692insAAAAA, NM_145167.2:c.*691_*692insAAAAAA, NM_145167.2:c.*691_*692insAAAAAAA, NM_145167.2:c.*691_*692insAAAAAAAA, NM_145167.2:c.*691_*692insAAAAAAAAA, NM_145167.2:c.*691_*692insAAAAAAAAAA, NM_145167.2:c.*691_*692insAAAAAAAAAAA, NM_145167.2:c.*691_*692insAAAAAAAAAAAA, NM_145167.2:c.*691_*692insAAAAAAAAAAAAAAAAAAAA, NM_145167.2:c.*691_*692insAAAAAAAAAAAAAAAAAAAAAAA, NM_145167.2:c.*691_*692insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_145167.3:c.*691_*692insA, NM_145167.3:c.*691_*692insAA, NM_145167.3:c.*691_*692insAAA, NM_145167.3:c.*691_*692insAAAA, NM_145167.3:c.*691_*692insAAAAA, NM_145167.3:c.*691_*692insAAAAAA, NM_145167.3:c.*691_*692insAAAAAAA, NM_145167.3:c.*691_*692insAAAAAAAA, NM_145167.3:c.*691_*692insAAAAAAAAA, NM_145167.3:c.*691_*692insAAAAAAAAAA, NM_145167.3:c.*691_*692insAAAAAAAAAAA, NM_145167.3:c.*691_*692insAAAAAAAAAAAA, NM_145167.3:c.*691_*692insAAAAAAAAAAAAAAAAAAAA, NM_145167.3:c.*691_*692insAAAAAAAAAAAAAAAAAAAAAAA, NM_145167.3:c.*691_*692insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      ...more
      3.

      rs1491046076 has merged into rs57645641 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        1:160029788 (GRCh38)
        1:159999578 (GRCh37)
        Canonical SPDI:
        NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        PIGM (Varview)
        Functional Consequence:
        3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTT=0./0 (ALFA)
        HGVS:
        NC_000001.11:g.160029788_160029800del, NC_000001.11:g.160029789_160029800del, NC_000001.11:g.160029790_160029800del, NC_000001.11:g.160029791_160029800del, NC_000001.11:g.160029792_160029800del, NC_000001.11:g.160029795_160029800del, NC_000001.11:g.160029796_160029800del, NC_000001.11:g.160029797_160029800del, NC_000001.11:g.160029798_160029800del, NC_000001.11:g.160029799_160029800del, NC_000001.11:g.160029800del, NC_000001.11:g.160029800dup, NC_000001.11:g.160029799_160029800dup, NC_000001.11:g.160029798_160029800dup, NC_000001.11:g.160029797_160029800dup, NC_000001.11:g.160029796_160029800dup, NC_000001.11:g.160029795_160029800dup, NC_000001.11:g.160029794_160029800dup, NC_000001.11:g.160029793_160029800dup, NC_000001.11:g.160029792_160029800dup, NC_000001.11:g.160029791_160029800dup, NC_000001.11:g.160029790_160029800dup, NC_000001.11:g.160029789_160029800dup, NC_000001.11:g.160029786_160029800dup, NC_000001.11:g.160029784_160029800dup, NC_000001.11:g.160029779_160029800dup, NC_000001.10:g.159999578_159999590del, NC_000001.10:g.159999579_159999590del, NC_000001.10:g.159999580_159999590del, NC_000001.10:g.159999581_159999590del, NC_000001.10:g.159999582_159999590del, NC_000001.10:g.159999585_159999590del, NC_000001.10:g.159999586_159999590del, NC_000001.10:g.159999587_159999590del, NC_000001.10:g.159999588_159999590del, NC_000001.10:g.159999589_159999590del, NC_000001.10:g.159999590del, NC_000001.10:g.159999590dup, NC_000001.10:g.159999589_159999590dup, NC_000001.10:g.159999588_159999590dup, NC_000001.10:g.159999587_159999590dup, NC_000001.10:g.159999586_159999590dup, NC_000001.10:g.159999585_159999590dup, NC_000001.10:g.159999584_159999590dup, NC_000001.10:g.159999583_159999590dup, NC_000001.10:g.159999582_159999590dup, NC_000001.10:g.159999581_159999590dup, NC_000001.10:g.159999580_159999590dup, NC_000001.10:g.159999579_159999590dup, NC_000001.10:g.159999576_159999590dup, NC_000001.10:g.159999574_159999590dup, NC_000001.10:g.159999569_159999590dup, NG_012238.1:g.7204_7216del, NG_012238.1:g.7205_7216del, NG_012238.1:g.7206_7216del, NG_012238.1:g.7207_7216del, NG_012238.1:g.7208_7216del, NG_012238.1:g.7211_7216del, NG_012238.1:g.7212_7216del, NG_012238.1:g.7213_7216del, NG_012238.1:g.7214_7216del, NG_012238.1:g.7215_7216del, NG_012238.1:g.7216del, NG_012238.1:g.7216dup, NG_012238.1:g.7215_7216dup, NG_012238.1:g.7214_7216dup, NG_012238.1:g.7213_7216dup, NG_012238.1:g.7212_7216dup, NG_012238.1:g.7211_7216dup, NG_012238.1:g.7210_7216dup, NG_012238.1:g.7209_7216dup, NG_012238.1:g.7208_7216dup, NG_012238.1:g.7207_7216dup, NG_012238.1:g.7206_7216dup, NG_012238.1:g.7205_7216dup, NG_012238.1:g.7202_7216dup, NG_012238.1:g.7200_7216dup, NG_012238.1:g.7195_7216dup, NM_145167.2:c.*678_*690del, NM_145167.2:c.*679_*690del, NM_145167.2:c.*680_*690del, NM_145167.2:c.*681_*690del, NM_145167.2:c.*682_*690del, NM_145167.2:c.*685_*690del, NM_145167.2:c.*686_*690del, NM_145167.2:c.*687_*690del, NM_145167.2:c.*688_*690del, NM_145167.2:c.*689_*690del, NM_145167.2:c.*690del, NM_145167.2:c.*690dup, NM_145167.2:c.*689_*690dup, NM_145167.2:c.*688_*690dup, NM_145167.2:c.*687_*690dup, NM_145167.2:c.*686_*690dup, NM_145167.2:c.*685_*690dup, NM_145167.2:c.*684_*690dup, NM_145167.2:c.*683_*690dup, NM_145167.2:c.*682_*690dup, NM_145167.2:c.*681_*690dup, NM_145167.2:c.*680_*690dup, NM_145167.2:c.*679_*690dup, NM_145167.2:c.*676_*690dup, NM_145167.2:c.*674_*690dup, NM_145167.2:c.*669_*690dup, NM_145167.3:c.*678_*690del, NM_145167.3:c.*679_*690del, NM_145167.3:c.*680_*690del, NM_145167.3:c.*681_*690del, NM_145167.3:c.*682_*690del, NM_145167.3:c.*685_*690del, NM_145167.3:c.*686_*690del, NM_145167.3:c.*687_*690del, NM_145167.3:c.*688_*690del, NM_145167.3:c.*689_*690del, NM_145167.3:c.*690del, NM_145167.3:c.*690dup, NM_145167.3:c.*689_*690dup, NM_145167.3:c.*688_*690dup, NM_145167.3:c.*687_*690dup, NM_145167.3:c.*686_*690dup, NM_145167.3:c.*685_*690dup, NM_145167.3:c.*684_*690dup, NM_145167.3:c.*683_*690dup, NM_145167.3:c.*682_*690dup, NM_145167.3:c.*681_*690dup, NM_145167.3:c.*680_*690dup, NM_145167.3:c.*679_*690dup, NM_145167.3:c.*676_*690dup, NM_145167.3:c.*674_*690dup, NM_145167.3:c.*669_*690dup
        ...more
        4.

        rs1489963811 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C,G [Show Flanks]
          Chromosome:
          1:160028200 (GRCh38)
          1:159997990 (GRCh37)
          Canonical SPDI:
          NC_000001.11:160028199:A:C,NC_000001.11:160028199:A:G
          Gene:
          PIGM (Varview)
          Functional Consequence:
          3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000094/1 (ALFA)
          C=0.000007/1 (GnomAD)
          G=0.000008/2 (TOPMED)
          ...more
          HGVS:
          5.

          rs1489077055 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            1:160029795 (GRCh38)
            1:159999585 (GRCh37)
            Canonical SPDI:
            NC_000001.11:160029794:T:C
            Gene:
            PIGM (Varview)
            Functional Consequence:
            3_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            HGVS:
            6.

            rs1488359041 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              1:160032265 (GRCh38)
              1:160002055 (GRCh37)
              Canonical SPDI:
              NC_000001.11:160032264:C:G
              Gene:
              PIGM (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1487110777 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                1:160029115 (GRCh38)
                1:159998905 (GRCh37)
                Canonical SPDI:
                NC_000001.11:160029114:C:A
                Gene:
                PIGM (Varview)
                Functional Consequence:
                3_prime_UTR_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1486756888 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  1:160032001 (GRCh38)
                  1:160001791 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:160032000:C:T
                  Gene:
                  PIGM (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1486664839 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    1:160033448 (GRCh38)
                    1:160003238 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:160033447:C:G
                    Gene:
                    PIGM (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000011/3 (TOPMED)
                    G=0.000029/4 (GnomAD)
                    ...more
                    HGVS:
                    10.

                    rs1486200130 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      1:160032589 (GRCh38)
                      1:160002379 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:160032588:T:C
                      Gene:
                      PIGM (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1484664165 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,G [Show Flanks]
                        Chromosome:
                        1:160029876 (GRCh38)
                        1:159999666 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:160029875:C:A,NC_000001.11:160029875:C:G
                        Gene:
                        PIGM (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1484568101 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          1:160033924 (GRCh38)
                          1:160003714 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:160033923:A:T
                          Gene:
                          PIGM (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000011/3 (TOPMED)
                          T=0.000014/2 (GnomAD)
                          ...more
                          HGVS:
                          13.

                          rs1484172776 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            1:160031578 (GRCh38)
                            1:160001368 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:160031577:G:A
                            Gene:
                            PIGM (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1484138103 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AGAA>- [Show Flanks]
                              Chromosome:
                              1:160028156 (GRCh38)
                              1:159997946 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:160028153:AAAGAA:AA
                              Gene:
                              PIGM (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              AA=0./0 (ALFA)
                              -=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1483626299 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TACA>- [Show Flanks]
                                Chromosome:
                                1:160027847 (GRCh38)
                                1:159997637 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:160027843:ACATACA:ACA
                                Gene:
                                PIGM (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                ACA=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1483260676 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  1:160029372 (GRCh38)
                                  1:159999162 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:160029371:A:G
                                  Gene:
                                  PIGM (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000014/2 (GnomAD)
                                  G=0.000015/4 (TOPMED)
                                  ...more
                                  HGVS:
                                  17.

                                  rs1482832378 has merged into rs57645641 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                    Chromosome:
                                    1:160029788 (GRCh38)
                                    1:159999578 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160029777:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                    Gene:
                                    PIGM (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TTTTTTTTTT=0./0 (ALFA)
                                    HGVS:
                                    NC_000001.11:g.160029788_160029800del, NC_000001.11:g.160029789_160029800del, NC_000001.11:g.160029790_160029800del, NC_000001.11:g.160029791_160029800del, NC_000001.11:g.160029792_160029800del, NC_000001.11:g.160029795_160029800del, NC_000001.11:g.160029796_160029800del, NC_000001.11:g.160029797_160029800del, NC_000001.11:g.160029798_160029800del, NC_000001.11:g.160029799_160029800del, NC_000001.11:g.160029800del, NC_000001.11:g.160029800dup, NC_000001.11:g.160029799_160029800dup, NC_000001.11:g.160029798_160029800dup, NC_000001.11:g.160029797_160029800dup, NC_000001.11:g.160029796_160029800dup, NC_000001.11:g.160029795_160029800dup, NC_000001.11:g.160029794_160029800dup, NC_000001.11:g.160029793_160029800dup, NC_000001.11:g.160029792_160029800dup, NC_000001.11:g.160029791_160029800dup, NC_000001.11:g.160029790_160029800dup, NC_000001.11:g.160029789_160029800dup, NC_000001.11:g.160029786_160029800dup, NC_000001.11:g.160029784_160029800dup, NC_000001.11:g.160029779_160029800dup, NC_000001.10:g.159999578_159999590del, NC_000001.10:g.159999579_159999590del, NC_000001.10:g.159999580_159999590del, NC_000001.10:g.159999581_159999590del, NC_000001.10:g.159999582_159999590del, NC_000001.10:g.159999585_159999590del, NC_000001.10:g.159999586_159999590del, NC_000001.10:g.159999587_159999590del, NC_000001.10:g.159999588_159999590del, NC_000001.10:g.159999589_159999590del, NC_000001.10:g.159999590del, NC_000001.10:g.159999590dup, NC_000001.10:g.159999589_159999590dup, NC_000001.10:g.159999588_159999590dup, NC_000001.10:g.159999587_159999590dup, NC_000001.10:g.159999586_159999590dup, NC_000001.10:g.159999585_159999590dup, NC_000001.10:g.159999584_159999590dup, NC_000001.10:g.159999583_159999590dup, NC_000001.10:g.159999582_159999590dup, NC_000001.10:g.159999581_159999590dup, NC_000001.10:g.159999580_159999590dup, NC_000001.10:g.159999579_159999590dup, NC_000001.10:g.159999576_159999590dup, NC_000001.10:g.159999574_159999590dup, NC_000001.10:g.159999569_159999590dup, NG_012238.1:g.7204_7216del, NG_012238.1:g.7205_7216del, NG_012238.1:g.7206_7216del, NG_012238.1:g.7207_7216del, NG_012238.1:g.7208_7216del, NG_012238.1:g.7211_7216del, NG_012238.1:g.7212_7216del, NG_012238.1:g.7213_7216del, NG_012238.1:g.7214_7216del, NG_012238.1:g.7215_7216del, NG_012238.1:g.7216del, NG_012238.1:g.7216dup, NG_012238.1:g.7215_7216dup, NG_012238.1:g.7214_7216dup, NG_012238.1:g.7213_7216dup, NG_012238.1:g.7212_7216dup, NG_012238.1:g.7211_7216dup, NG_012238.1:g.7210_7216dup, NG_012238.1:g.7209_7216dup, NG_012238.1:g.7208_7216dup, NG_012238.1:g.7207_7216dup, NG_012238.1:g.7206_7216dup, NG_012238.1:g.7205_7216dup, NG_012238.1:g.7202_7216dup, NG_012238.1:g.7200_7216dup, NG_012238.1:g.7195_7216dup, NM_145167.2:c.*678_*690del, NM_145167.2:c.*679_*690del, NM_145167.2:c.*680_*690del, NM_145167.2:c.*681_*690del, NM_145167.2:c.*682_*690del, NM_145167.2:c.*685_*690del, NM_145167.2:c.*686_*690del, NM_145167.2:c.*687_*690del, NM_145167.2:c.*688_*690del, NM_145167.2:c.*689_*690del, NM_145167.2:c.*690del, NM_145167.2:c.*690dup, NM_145167.2:c.*689_*690dup, NM_145167.2:c.*688_*690dup, NM_145167.2:c.*687_*690dup, NM_145167.2:c.*686_*690dup, NM_145167.2:c.*685_*690dup, NM_145167.2:c.*684_*690dup, NM_145167.2:c.*683_*690dup, NM_145167.2:c.*682_*690dup, NM_145167.2:c.*681_*690dup, NM_145167.2:c.*680_*690dup, NM_145167.2:c.*679_*690dup, NM_145167.2:c.*676_*690dup, NM_145167.2:c.*674_*690dup, NM_145167.2:c.*669_*690dup, NM_145167.3:c.*678_*690del, NM_145167.3:c.*679_*690del, NM_145167.3:c.*680_*690del, NM_145167.3:c.*681_*690del, NM_145167.3:c.*682_*690del, NM_145167.3:c.*685_*690del, NM_145167.3:c.*686_*690del, NM_145167.3:c.*687_*690del, NM_145167.3:c.*688_*690del, NM_145167.3:c.*689_*690del, NM_145167.3:c.*690del, NM_145167.3:c.*690dup, NM_145167.3:c.*689_*690dup, NM_145167.3:c.*688_*690dup, NM_145167.3:c.*687_*690dup, NM_145167.3:c.*686_*690dup, NM_145167.3:c.*685_*690dup, NM_145167.3:c.*684_*690dup, NM_145167.3:c.*683_*690dup, NM_145167.3:c.*682_*690dup, NM_145167.3:c.*681_*690dup, NM_145167.3:c.*680_*690dup, NM_145167.3:c.*679_*690dup, NM_145167.3:c.*676_*690dup, NM_145167.3:c.*674_*690dup, NM_145167.3:c.*669_*690dup
                                    ...more
                                    18.

                                    rs1482695054 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      1:160029228 (GRCh38)
                                      1:159999018 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:160029227:T:C
                                      Gene:
                                      PIGM (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      ...more
                                      HGVS:
                                      19.

                                      rs1482422107 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        1:160031556 (GRCh38)
                                        1:160001346 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:160031555:C:G,NC_000001.11:160031555:C:T
                                        Gene:
                                        PIGM (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000011/3 (TOPMED)
                                        T=0.000029/4 (GnomAD)
                                        ...more
                                        HGVS:
                                        20.

                                        rs1482351902 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          1:160027562 (GRCh38)
                                          1:159997352 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:160027561:T:C
                                          Gene:
                                          PIGM (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000015/4 (TOPMED)
                                          C=0.000029/4 (GnomAD)
                                          ...more
                                          HGVS:

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