U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 3471

1.

rs1491580211 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->CTT [Show Flanks]
    Chromosome:
    20:25847831 (GRCh38)
    20:25828468 (GRCh37)
    Canonical SPDI:
    NC_000020.11:25847831:TT:TTCTT
    Gene:
    LOC101926935 (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTCTT=0./0 (ALFA)
    TTC=0.00221/4 (Korea1K)
    HGVS:
    2.

    rs1491575248 has merged into rs35184255 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      20:25851809 (GRCh38)
      20:25832445 (GRCh37)
      Canonical SPDI:
      NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      LOC101926935 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTTTTTT=0./0 (ALFA)
      HGVS:
      NC_000020.11:g.25851809_25851812del, NC_000020.11:g.25851810_25851812del, NC_000020.11:g.25851811_25851812del, NC_000020.11:g.25851812del, NC_000020.11:g.25851812dup, NC_000020.11:g.25851811_25851812dup, NC_000020.11:g.25851810_25851812dup, NC_000020.11:g.25851809_25851812dup, NC_000020.11:g.25851808_25851812dup, NC_000020.11:g.25851807_25851812dup, NC_000020.11:g.25851806_25851812dup, NC_000020.11:g.25851804_25851812dup, NC_000020.10:g.25832445_25832448del, NC_000020.10:g.25832446_25832448del, NC_000020.10:g.25832447_25832448del, NC_000020.10:g.25832448del, NC_000020.10:g.25832448dup, NC_000020.10:g.25832447_25832448dup, NC_000020.10:g.25832446_25832448dup, NC_000020.10:g.25832445_25832448dup, NC_000020.10:g.25832444_25832448dup, NC_000020.10:g.25832443_25832448dup, NC_000020.10:g.25832442_25832448dup, NC_000020.10:g.25832440_25832448dup
      3.

      rs1491461350 has merged into rs568248043 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        20:25847841 (GRCh38)
        20:25828477 (GRCh37)
        Canonical SPDI:
        NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        LOC101926935 (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTT=0./0 (ALFA)
        HGVS:
        NC_000020.11:g.25847841_25847856del, NC_000020.11:g.25847842_25847856del, NC_000020.11:g.25847843_25847856del, NC_000020.11:g.25847844_25847856del, NC_000020.11:g.25847845_25847856del, NC_000020.11:g.25847846_25847856del, NC_000020.11:g.25847847_25847856del, NC_000020.11:g.25847848_25847856del, NC_000020.11:g.25847849_25847856del, NC_000020.11:g.25847850_25847856del, NC_000020.11:g.25847851_25847856del, NC_000020.11:g.25847852_25847856del, NC_000020.11:g.25847853_25847856del, NC_000020.11:g.25847854_25847856del, NC_000020.11:g.25847855_25847856del, NC_000020.11:g.25847856del, NC_000020.11:g.25847856dup, NC_000020.11:g.25847855_25847856dup, NC_000020.11:g.25847854_25847856dup, NC_000020.11:g.25847831_25847856T[29]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.25847853_25847856dup, NC_000020.11:g.25847852_25847856dup, NC_000020.11:g.25847851_25847856dup, NC_000020.11:g.25847850_25847856dup, NC_000020.11:g.25847849_25847856dup, NC_000020.11:g.25847848_25847856dup, NC_000020.11:g.25847847_25847856dup, NC_000020.11:g.25847846_25847856dup, NC_000020.11:g.25847856_25847857insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.25828477_25828492del, NC_000020.10:g.25828478_25828492del, NC_000020.10:g.25828479_25828492del, NC_000020.10:g.25828480_25828492del, NC_000020.10:g.25828481_25828492del, NC_000020.10:g.25828482_25828492del, NC_000020.10:g.25828483_25828492del, NC_000020.10:g.25828484_25828492del, NC_000020.10:g.25828485_25828492del, NC_000020.10:g.25828486_25828492del, NC_000020.10:g.25828487_25828492del, NC_000020.10:g.25828488_25828492del, NC_000020.10:g.25828489_25828492del, NC_000020.10:g.25828490_25828492del, NC_000020.10:g.25828491_25828492del, NC_000020.10:g.25828492del, NC_000020.10:g.25828492dup, NC_000020.10:g.25828491_25828492dup, NC_000020.10:g.25828490_25828492dup, NC_000020.10:g.25828467_25828492T[29]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.25828489_25828492dup, NC_000020.10:g.25828488_25828492dup, NC_000020.10:g.25828487_25828492dup, NC_000020.10:g.25828486_25828492dup, NC_000020.10:g.25828485_25828492dup, NC_000020.10:g.25828484_25828492dup, NC_000020.10:g.25828483_25828492dup, NC_000020.10:g.25828482_25828492dup, NC_000020.10:g.25828492_25828493insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NR_110001.1:n.3103_3118del, NR_110001.1:n.3104_3118del, NR_110001.1:n.3105_3118del, NR_110001.1:n.3106_3118del, NR_110001.1:n.3107_3118del, NR_110001.1:n.3108_3118del, NR_110001.1:n.3109_3118del, NR_110001.1:n.3110_3118del, NR_110001.1:n.3111_3118del, NR_110001.1:n.3112_3118del, NR_110001.1:n.3113_3118del, NR_110001.1:n.3114_3118del, NR_110001.1:n.3115_3118del, NR_110001.1:n.3116_3118del, NR_110001.1:n.3117_3118del, NR_110001.1:n.3118del, NR_110001.1:n.3118dup, NR_110001.1:n.3117_3118dup, NR_110001.1:n.3116_3118dup, NR_110001.1:n.3093_3118A[36]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NR_110001.1:n.3115_3118dup, NR_110001.1:n.3114_3118dup, NR_110001.1:n.3113_3118dup, NR_110001.1:n.3112_3118dup, NR_110001.1:n.3111_3118dup, NR_110001.1:n.3110_3118dup, NR_110001.1:n.3109_3118dup, NR_110001.1:n.3108_3118dup, NR_110001.1:n.3118_3119insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        4.

        rs1491450179 has merged into rs35482692 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          20:25849286 (GRCh38)
          20:25829922 (GRCh37)
          Canonical SPDI:
          NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          LOC101926935 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTTT=0./0 (ALFA)
          -=0.0128/7 (NorthernSweden)
          HGVS:
          NC_000020.11:g.25849286_25849299del, NC_000020.11:g.25849288_25849299del, NC_000020.11:g.25849290_25849299del, NC_000020.11:g.25849291_25849299del, NC_000020.11:g.25849292_25849299del, NC_000020.11:g.25849293_25849299del, NC_000020.11:g.25849294_25849299del, NC_000020.11:g.25849295_25849299del, NC_000020.11:g.25849296_25849299del, NC_000020.11:g.25849297_25849299del, NC_000020.11:g.25849298_25849299del, NC_000020.11:g.25849299del, NC_000020.11:g.25849299dup, NC_000020.11:g.25849298_25849299dup, NC_000020.11:g.25849297_25849299dup, NC_000020.11:g.25849296_25849299dup, NC_000020.11:g.25849295_25849299dup, NC_000020.11:g.25849294_25849299dup, NC_000020.11:g.25849293_25849299dup, NC_000020.11:g.25849286_25849299dup, NC_000020.10:g.25829922_25829935del, NC_000020.10:g.25829924_25829935del, NC_000020.10:g.25829926_25829935del, NC_000020.10:g.25829927_25829935del, NC_000020.10:g.25829928_25829935del, NC_000020.10:g.25829929_25829935del, NC_000020.10:g.25829930_25829935del, NC_000020.10:g.25829931_25829935del, NC_000020.10:g.25829932_25829935del, NC_000020.10:g.25829933_25829935del, NC_000020.10:g.25829934_25829935del, NC_000020.10:g.25829935del, NC_000020.10:g.25829935dup, NC_000020.10:g.25829934_25829935dup, NC_000020.10:g.25829933_25829935dup, NC_000020.10:g.25829932_25829935dup, NC_000020.10:g.25829931_25829935dup, NC_000020.10:g.25829930_25829935dup, NC_000020.10:g.25829929_25829935dup, NC_000020.10:g.25829922_25829935dup
          5.

          rs1491429855 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->C [Show Flanks]
            Chromosome:
            20:25851565 (GRCh38)
            20:25832202 (GRCh37)
            Canonical SPDI:
            NC_000020.11:25851565::C
            Gene:
            LOC101926935 (Varview)
            Functional Consequence:
            intron_variant
            HGVS:
            6.

            rs1491185656 has merged into rs35184255 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
              Chromosome:
              20:25851809 (GRCh38)
              20:25832445 (GRCh37)
              Canonical SPDI:
              NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
              Gene:
              LOC101926935 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTTTTTTTT=0./0 (ALFA)
              HGVS:
              NC_000020.11:g.25851809_25851812del, NC_000020.11:g.25851810_25851812del, NC_000020.11:g.25851811_25851812del, NC_000020.11:g.25851812del, NC_000020.11:g.25851812dup, NC_000020.11:g.25851811_25851812dup, NC_000020.11:g.25851810_25851812dup, NC_000020.11:g.25851809_25851812dup, NC_000020.11:g.25851808_25851812dup, NC_000020.11:g.25851807_25851812dup, NC_000020.11:g.25851806_25851812dup, NC_000020.11:g.25851804_25851812dup, NC_000020.10:g.25832445_25832448del, NC_000020.10:g.25832446_25832448del, NC_000020.10:g.25832447_25832448del, NC_000020.10:g.25832448del, NC_000020.10:g.25832448dup, NC_000020.10:g.25832447_25832448dup, NC_000020.10:g.25832446_25832448dup, NC_000020.10:g.25832445_25832448dup, NC_000020.10:g.25832444_25832448dup, NC_000020.10:g.25832443_25832448dup, NC_000020.10:g.25832442_25832448dup, NC_000020.10:g.25832440_25832448dup
              7.

              rs1490736117 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                20:25848544 (GRCh38)
                20:25829180 (GRCh37)
                Canonical SPDI:
                NC_000020.11:25848543:A:G
                Gene:
                LOC101926935 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1490684637 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  20:25849240 (GRCh38)
                  20:25829876 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:25849239:C:G,NC_000020.11:25849239:C:T
                  Gene:
                  LOC101926935 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000019/5 (TOPMED)
                  G=0.000035/1 (TOMMO)
                  HGVS:
                  9.

                  rs1490573361 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    20:25848877 (GRCh38)
                    20:25829513 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:25848876:A:C
                    Gene:
                    LOC101926935 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1490445410 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      20:25848664 (GRCh38)
                      20:25829300 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:25848663:G:T
                      Gene:
                      LOC101926935 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000006/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1490002987 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        20:25854539 (GRCh38)
                        20:25835175 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:25854538:G:T
                        Gene:
                        LOC101926935 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        T=0.0246/72 (KOREAN)
                        HGVS:
                        12.

                        rs1489660295 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,G,T [Show Flanks]
                          Chromosome:
                          20:25849731 (GRCh38)
                          20:25830367 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:25849730:C:A,NC_000020.11:25849730:C:G,NC_000020.11:25849730:C:T
                          Gene:
                          LOC101926935 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1489536214 [Homo sapiens]
                            Variant type:
                            INS
                            Alleles:
                            ->CA [Show Flanks]
                            Chromosome:
                            20:25854447 (GRCh38)
                            20:25835084 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:25854447::CA
                            Gene:
                            LOC101926935 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            HGVS:
                            14.

                            rs1488463673 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              20:25845538 (GRCh38)
                              20:25826174 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:25845537:C:G
                              Gene:
                              LOC101926935 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.0034/10 (KOREAN)
                              HGVS:
                              15.

                              rs1488454880 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                20:25847456 (GRCh38)
                                20:25828092 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:25847455:C:A
                                Gene:
                                LOC101926935 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1488140050 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  20:25844395 (GRCh38)
                                  20:25825031 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:25844394:C:A
                                  Gene:
                                  LOC101926935 (Varview)
                                  Functional Consequence:
                                  500B_downstream_variant,downstream_transcript_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  C=0./0 (SGDP_PRJ)
                                  A=0.001/12 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1488080888 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,T [Show Flanks]
                                    Chromosome:
                                    20:25850124 (GRCh38)
                                    20:25830760 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:25850123:G:A,NC_000020.11:25850123:G:T
                                    Gene:
                                    LOC101926935 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000035/1 (TOMMO)
                                    A=0.000043/6 (GnomAD)
                                    A=0.000049/13 (TOPMED)
                                    T=0.000342/1 (KOREAN)
                                    HGVS:
                                    18.

                                    rs1488018577 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      20:25848317 (GRCh38)
                                      20:25828953 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:25848316:A:G
                                      Gene:
                                      LOC101926935 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      G=0.00006/16 (TOPMED)
                                      G=0.000078/11 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1487864626 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        20:25852910 (GRCh38)
                                        20:25833546 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:25852909:T:C
                                        Gene:
                                        LOC101926935 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1487458175 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          20:25854143 (GRCh38)
                                          20:25834779 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:25854142:C:T
                                          Gene:
                                          LOC101926935 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000011/3 (TOPMED)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Find related data

                                          Recent activity

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...