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Items: 1 to 20 of 5867

1.

rs1491497596 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    ->TTTTTTTTTTTTTA
    Chromosome:
    no mapping
    Canonical SPDI:
    2.

    rs1491447790 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->ACACACATATAT,ATACACACATATAT [Show Flanks]
      Chromosome:
      6:89099457 (GRCh38)
      6:89809177 (GRCh37)
      Canonical SPDI:
      NC_000006.12:89099457:ATATAT:ATATATACACACATATAT,NC_000006.12:89099457:ATATAT:ATATATATACACACATATAT
      Gene:
      PM20D2 (Varview), SRSF12 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by cluster
      MAF:
      ATATATATACACAC=0.00042/7 (TOMMO)
      ATATATATACACAC=0.00055/1 (Korea1K)
      HGVS:
      3.

      rs1491425713 has merged into rs75997148 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
        Chromosome:
        6:89111122 (GRCh38)
        6:89820841 (GRCh37)
        Canonical SPDI:
        NC_000006.12:89111109:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:89111109:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:89111109:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:89111109:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:89111109:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:89111109:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
        Gene:
        PM20D2 (Varview), SRSF12 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTTTTT=0./0 (ALFA)
        -=0.000015/4 (TOPMED)
        T=0.000637/18 (TOMMO)
        T=0.2/8 (GENOME_DK)
        HGVS:
        4.

        rs1491329104 has merged into rs1165109904 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ATATAT>-,AT,ATAT,ATATATACACACATATATAT,ATATATACACATATATAT,ATATATATAT [Show Flanks]
          Chromosome:
          6:89099458 (GRCh38)
          6:89809177 (GRCh37)
          Canonical SPDI:
          NC_000006.12:89099456:TATATAT:T,NC_000006.12:89099456:TATATAT:TAT,NC_000006.12:89099456:TATATAT:TATAT,NC_000006.12:89099456:TATATAT:TATATATACACACATATATAT,NC_000006.12:89099456:TATATAT:TATATATACACATATATAT,NC_000006.12:89099456:TATATAT:TATATATATAT
          Gene:
          PM20D2 (Varview), SRSF12 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TATAT=0./0 (ALFA)
          HGVS:
          5.

          rs1491319606 has merged into rs760005395 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTTTTTTTTTTTT>-,TTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            6:89115638 (GRCh38)
            6:89825357 (GRCh37)
            Canonical SPDI:
            NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89115631:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            PM20D2 (Varview), SRSF12 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTTT=0./0 (ALFA)
            -=0.000023/6 (TOPMED)
            TT=0.006667/4 (NorthernSweden)
            -=0.05/2 (GENOME_DK)
            HGVS:
            NC_000006.12:g.89115638_89115653del, NC_000006.12:g.89115643_89115653del, NC_000006.12:g.89115645_89115653del, NC_000006.12:g.89115647_89115653del, NC_000006.12:g.89115649_89115653del, NC_000006.12:g.89115651_89115653del, NC_000006.12:g.89115652_89115653del, NC_000006.12:g.89115653del, NC_000006.12:g.89115653dup, NC_000006.12:g.89115652_89115653dup, NC_000006.12:g.89115651_89115653dup, NC_000006.12:g.89115649_89115653dup, NC_000006.12:g.89115648_89115653dup, NC_000006.12:g.89115644_89115653dup, NC_000006.12:g.89115643_89115653dup, NC_000006.12:g.89115642_89115653dup, NC_000006.12:g.89115641_89115653dup, NC_000006.12:g.89115634_89115653dup, NC_000006.11:g.89825357_89825372del, NC_000006.11:g.89825362_89825372del, NC_000006.11:g.89825364_89825372del, NC_000006.11:g.89825366_89825372del, NC_000006.11:g.89825368_89825372del, NC_000006.11:g.89825370_89825372del, NC_000006.11:g.89825371_89825372del, NC_000006.11:g.89825372del, NC_000006.11:g.89825372dup, NC_000006.11:g.89825371_89825372dup, NC_000006.11:g.89825370_89825372dup, NC_000006.11:g.89825368_89825372dup, NC_000006.11:g.89825367_89825372dup, NC_000006.11:g.89825363_89825372dup, NC_000006.11:g.89825362_89825372dup, NC_000006.11:g.89825361_89825372dup, NC_000006.11:g.89825360_89825372dup, NC_000006.11:g.89825353_89825372dup
            6.

            rs1491316616 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GT>- [Show Flanks]
              Chromosome:
              6:89106285 (GRCh38)
              6:89816004 (GRCh37)
              Canonical SPDI:
              NC_000006.12:89106283:TGT:T
              Gene:
              PM20D2 (Varview), SRSF12 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant
              Validated:
              by cluster
              HGVS:
              7.

              rs1491267612 has merged into rs35086229 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAA>-,A,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
                Chromosome:
                6:89100534 (GRCh38)
                6:89810253 (GRCh37)
                Canonical SPDI:
                NC_000006.12:89100522:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:89100522:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:89100522:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:89100522:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:89100522:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:89100522:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:89100522:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:89100522:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:89100522:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:89100522:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
                Gene:
                PM20D2 (Varview), SRSF12 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAAAAA=0./0 (ALFA)
                AA=0.225/9 (GENOME_DK)
                AA=0.246/1232 (1000Genomes)
                HGVS:
                8.

                rs1491252954 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  GA>- [Show Flanks]
                  Chromosome:
                  6:89109435 (GRCh38)
                  6:89819154 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:89109432:GAGA:GA
                  Gene:
                  PM20D2 (Varview), SRSF12 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  GAGA=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1491109478 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    TA>- [Show Flanks]
                    Chromosome:
                    6:89100522 (GRCh38)
                    6:89810241 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:89100521:TA:
                    Gene:
                    PM20D2 (Varview), SRSF12 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1491068854 has merged into rs72183494 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
                      Chromosome:
                      6:89114615 (GRCh38)
                      6:89824334 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:89114603:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:89114603:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:89114603:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:89114603:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:89114603:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
                      Gene:
                      PM20D2 (Varview), SRSF12 (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAAAAAAAAAAAAAA=0./0 (ALFA)
                      A=0.00181/2 (1000Genomes)
                      -=0.04833/29 (NorthernSweden)
                      -=0.075/3 (GENOME_DK)
                      HGVS:
                      11.

                      rs1490828048 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        6:89104203 (GRCh38)
                        6:89813922 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:89104202:A:T
                        Gene:
                        PM20D2 (Varview), SRSF12 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0.00253/30 (ALFA)
                        T=0.00856/25 (KOREAN)
                        HGVS:
                        12.

                        rs1490647574 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          6:89115999 (GRCh38)
                          6:89825718 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:89115998:C:T
                          Gene:
                          PM20D2 (Varview), SRSF12 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000014/2 (GnomAD)
                          T=0.000015/4 (TOPMED)
                          HGVS:
                          13.

                          rs1490298064 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            6:89102678 (GRCh38)
                            6:89812397 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:89102677:G:T
                            Gene:
                            PM20D2 (Varview), SRSF12 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000008/2 (TOPMED)
                            T=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1490012303 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              6:89103463 (GRCh38)
                              6:89813182 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:89103462:G:C
                              Gene:
                              PM20D2 (Varview), SRSF12 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000008/2 (TOPMED)
                              C=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1489986011 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                6:89103644 (GRCh38)
                                6:89813363 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:89103643:G:A,NC_000006.12:89103643:G:C
                                Gene:
                                PM20D2 (Varview), SRSF12 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1489829517 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  6:89116492 (GRCh38)
                                  6:89826211 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:89116491:T:C
                                  Gene:
                                  PM20D2 (Varview), SRSF12 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1489719861 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    6:89101148 (GRCh38)
                                    6:89810867 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:89101147:G:C
                                    Gene:
                                    PM20D2 (Varview), SRSF12 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000008/1 (GnomAD)
                                    C=0.000019/5 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489714268 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,G [Show Flanks]
                                      Chromosome:
                                      6:89117723 (GRCh38)
                                      6:89827442 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:89117722:C:A,NC_000006.12:89117722:C:G
                                      Gene:
                                      PM20D2 (Varview), SRSF12 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      G=0.000015/4 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1489658440 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        6:89111068 (GRCh38)
                                        6:89820787 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:89111067:T:C
                                        Gene:
                                        PM20D2 (Varview), SRSF12 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000011/3 (TOPMED)
                                        C=0.000014/2 (GnomAD)
                                        C=0.000342/1 (KOREAN)
                                        C=0.000546/1 (Korea1K)
                                        HGVS:
                                        20.

                                        rs1489614131 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          6:89100003 (GRCh38)
                                          6:89809722 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:89100002:T:C
                                          Gene:
                                          PM20D2 (Varview), SRSF12 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000071/1 (ALFA)
                                          C=0.000011/3 (TOPMED)
                                          C=0.000029/4 (GnomAD)
                                          HGVS:

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