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Items: 1 to 20 of 553616

1.

rs2230096 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    6:1610850 (GRCh38)
    6:1611085 (GRCh37)
    Canonical SPDI:
    NC_000006.12:1610849:C:A,NC_000006.12:1610849:C:T
    Gene:
    FOXC1 (Varview)
    Functional Consequence:
    coding_sequence_variant,stop_gained,synonymous_variant
    Clinical significance:
    benign,pathogenic
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.008121/405 (ALFA)
    T=0.005618/3 (MGP)
    T=0.007928/1993 (GnomAD_exomes)
    T=0.009638/1168 (ExAC)
    T=0.027778/6 (Qatari)
    T=0.030961/4340 (GnomAD)
    T=0.031949/160 (1000Genomes)
    T=0.032487/8599 (TOPMED)
    T=0.035215/458 (GoESP)
    C=0.458333/11 (SGDP_PRJ)
    HGVS:
    2.

    rs2236277 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      6:2959279 (GRCh38)
      6:2959513 (GRCh37)
      Canonical SPDI:
      NC_000006.12:2959278:C:T
      Gene:
      SERPINB6 (Varview)
      Functional Consequence:
      intron_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
      Clinical significance:
      benign
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.328259/78385 (ALFA)
      T=0.194444/42 (Qatari)
      T=0.225/9 (GENOME_DK)
      T=0.274181/3566 (GoESP)
      T=0.288271/40362 (GnomAD)
      T=0.299622/1111 (TWINSUK)
      T=0.302773/80141 (TOPMED)
      T=0.305921/93 (FINRISK)
      T=0.31/186 (NorthernSweden)
      T=0.311607/1396 (Estonian)
      T=0.315011/596 (HapMap)
      T=0.316035/1218 (ALSPAC)
      T=0.325651/325 (GoNL)
      T=0.341039/41396 (ExAC)
      T=0.341254/1709 (1000Genomes)
      T=0.348783/87707 (GnomAD_exomes)
      C=0.359649/123 (SGDP_PRJ)
      T=0.378482/788 (HGDP_Stanford)
      T=0.383895/205 (MGP)
      T=0.457143/32 (PRJEB36033)
      C=0.458333/11 (Siberian)
      T=0.465909/287 (Vietnamese)
      C=0.475888/375 (PRJEB37584)
      T=0.491126/1439 (KOREAN)
      T=0.497196/8333 (TOMMO)
      HGVS:
      3.

      rs2295766 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        6:2953160 (GRCh38)
        6:2953394 (GRCh37)
        Canonical SPDI:
        NC_000006.12:2953159:C:T
        Gene:
        SERPINB6 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,non_coding_transcript_variant
        Clinical significance:
        benign-likely-benign,benign
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000699/195 (ALFA)
        T=0.000077/1 (GoESP)
        T=0.001084/152 (GnomAD)
        T=0.001873/1 (MGP)
        T=0.001953/517 (TOPMED)
        T=0.002566/43 (TOMMO)
        T=0.003353/407 (ExAC)
        T=0.003794/19 (1000Genomes)
        T=0.004076/1025 (GnomAD_exomes)
        T=0.004219/332 (PAGE_STUDY)
        T=0.004367/8 (Korea1K)
        T=0.00616/18 (KOREAN)
        T=0.013924/11 (PRJEB37584)
        T=0.019194/20 (HapMap)
        T=0.01956/64 (PRJEB37766)
        T=0.026059/16 (Vietnamese)
        HGVS:
        NC_000006.12:g.2953160C>T, NC_000006.11:g.2953394C>T, NG_027692.1:g.24006G>A, NM_004568.5:c.457G>A, NM_004568.6:c.457G>A, NM_001195291.2:c.469G>A, NM_001195291.3:c.469G>A, NM_001271822.2:c.499G>A, NM_001271822.1:c.499G>A, NM_001271825.2:c.457G>A, NM_001271825.1:c.457G>A, NM_001297699.1:c.457G>A, NM_001297699.2:c.457G>A, NM_001271824.1:c.457G>A, NM_001271824.2:c.457G>A, NM_001297700.1:c.457G>A, NM_001297700.2:c.457G>A, NM_001271823.1:c.514G>A, NM_001271823.2:c.514G>A, XM_017010941.1:c.325G>A, XM_024446464.1:c.457G>A, XM_011514672.1:c.691G>A, XM_024446465.1:c.325G>A, NM_001374515.1:c.469G>A, XM_024446462.1:c.469G>A, XM_017010940.1:c.469G>A, NM_001374517.1:c.325G>A, NR_164657.1:n.502G>A, NM_001374516.1:c.457G>A, NP_004559.4:p.Gly153Ser, NP_001182220.2:p.Gly157Ser, NP_001258751.1:p.Gly167Ser, NP_001258754.1:p.Gly153Ser, NP_001284628.1:p.Gly153Ser, NP_001258753.1:p.Gly153Ser, NP_001284629.1:p.Gly153Ser, NP_001258752.1:p.Gly172Ser, XP_016866430.1:p.Gly109Ser, XP_024302232.1:p.Gly153Ser, XP_011512974.1:p.Gly231Ser, XP_024302233.1:p.Gly109Ser, NP_001361444.1:p.Gly157Ser, XP_024302230.1:p.Gly157Ser, XP_016866429.1:p.Gly157Ser, NP_001361446.1:p.Gly109Ser, NP_001361445.1:p.Gly153Ser
        4.

        rs2295769 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          6:2955568 (GRCh38)
          6:2955802 (GRCh37)
          Canonical SPDI:
          NC_000006.12:2955567:T:C
          Gene:
          SERPINB6 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant
          Clinical significance:
          benign
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.292694/110620 (ALFA)
          C=0.16975/13359 (PAGE_STUDY)
          C=0.190476/360 (HapMap)
          C=0.212859/1066 (1000Genomes)
          C=0.214052/131 (Vietnamese)
          C=0.220042/58243 (TOPMED)
          C=0.220283/2865 (GoESP)
          C=0.221969/31105 (GnomAD)
          C=0.230263/70 (FINRISK)
          C=0.243996/508 (HGDP_Stanford)
          C=0.25716/4310 (TOMMO)
          C=0.264454/32100 (ExAC)
          C=0.265735/66825 (GnomAD_exomes)
          C=0.275/11 (GENOME_DK)
          C=0.285571/285 (GoNL)
          C=0.28839/154 (MGP)
          C=0.295/177 (NorthernSweden)
          C=0.298035/546 (Korea1K)
          C=0.299777/1343 (Estonian)
          C=0.301505/1162 (ALSPAC)
          C=0.301706/884 (KOREAN)
          C=0.3125/20 (PRJEB36033)
          C=0.317961/1179 (TWINSUK)
          T=0.379808/79 (SGDP_PRJ)
          T=0.404762/17 (Siberian)
          C=0.407407/88 (Qatari)
          HGVS:
          NC_000006.12:g.2955568T>C, NC_000006.11:g.2955802T>C, NG_027692.1:g.21598A>G, NM_004568.5:c.268A>G, NM_004568.6:c.268A>G, NM_001195291.2:c.280A>G, NM_001195291.3:c.280A>G, NM_001271822.2:c.310A>G, NM_001271822.1:c.310A>G, NM_001271825.2:c.268A>G, NM_001271825.1:c.268A>G, NM_001297699.1:c.268A>G, NM_001297699.2:c.268A>G, NM_001271824.1:c.268A>G, NM_001271824.2:c.268A>G, NM_001297700.1:c.268A>G, NM_001297700.2:c.268A>G, NM_001271823.1:c.325A>G, NM_001271823.2:c.325A>G, XM_017010941.1:c.136A>G, XM_024446464.1:c.268A>G, XM_011514672.1:c.502A>G, XM_024446465.1:c.136A>G, NM_001374515.1:c.280A>G, XM_024446462.1:c.280A>G, XM_017010940.1:c.280A>G, NM_001374517.1:c.136A>G, NR_164657.1:n.313A>G, NM_001374516.1:c.268A>G, NP_004559.4:p.Met90Val, NP_001182220.2:p.Met94Val, NP_001258751.1:p.Met104Val, NP_001258754.1:p.Met90Val, NP_001284628.1:p.Met90Val, NP_001258753.1:p.Met90Val, NP_001284629.1:p.Met90Val, NP_001258752.1:p.Met109Val, XP_016866430.1:p.Met46Val, XP_024302232.1:p.Met90Val, XP_011512974.1:p.Met168Val, XP_024302233.1:p.Met46Val, NP_001361444.1:p.Met94Val, XP_024302230.1:p.Met94Val, XP_016866429.1:p.Met94Val, NP_001361446.1:p.Met46Val, NP_001361445.1:p.Met90Val
          6.

          rs3799196 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            6:2968811 (GRCh38)
            6:2969045 (GRCh37)
            Canonical SPDI:
            NC_000006.12:2968810:T:C
            Gene:
            SERPINB6 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant,initiator_codon_variant,5_prime_UTR_variant,missense_variant
            Clinical significance:
            likely-benign
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.015269/505 (ALFA)
            C=0.003401/57 (TOMMO)
            C=0.00463/1 (Qatari)
            C=0.006004/11 (Korea1K)
            C=0.006502/19 (KOREAN)
            C=0.011667/7 (NorthernSweden)
            C=0.013484/50 (TWINSUK)
            C=0.01458/2045 (GnomAD)
            C=0.014874/3937 (TOPMED)
            C=0.017385/67 (ALSPAC)
            C=0.017699/20 (Daghestan)
            C=0.017857/80 (Estonian)
            C=0.02004/20 (GoNL)
            C=0.020211/23 (HapMap)
            C=0.021565/108 (1000Genomes)
            T=0.5/1 (Siberian)
            T=0.5/15 (SGDP_PRJ)
            HGVS:
            7.

            rs12209811 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,G [Show Flanks]
              Chromosome:
              6:2953262 (GRCh38)
              6:2953496 (GRCh37)
              Canonical SPDI:
              NC_000006.12:2953261:C:A,NC_000006.12:2953261:C:G
              Gene:
              SERPINB6 (Varview)
              Functional Consequence:
              intron_variant
              Clinical significance:
              benign
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.078643/1171 (ALFA)
              G=0.125/5 (GENOME_DK)
              G=0.127341/68 (MGP)
              G=0.130261/130 (GoNL)
              G=0.139288/407 (KOREAN)
              G=0.141447/258 (Korea1K)
              G=0.144552/536 (TWINSUK)
              G=0.146667/88 (NorthernSweden)
              G=0.147379/568 (ALSPAC)
              G=0.162054/726 (Estonian)
              G=0.164081/2750 (TOMMO)
              G=0.206105/54554 (TOPMED)
              G=0.215958/30251 (GnomAD)
              G=0.216853/1086 (1000Genomes)
              G=0.221698/47 (Vietnamese)
              G=0.236111/51 (Qatari)
              C=0.45/9 (Siberian)
              C=0.466292/83 (SGDP_PRJ)
              HGVS:
              8.

              rs34249702 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                6:2840548 (GRCh38)
                6:2840782 (GRCh37)
                Canonical SPDI:
                NC_000006.12:2840547:C:T
                Gene:
                SERPINB1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
                Clinical significance:
                benign
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.003589/185 (ALFA)
                T=0.000259/1 (ALSPAC)
                T=0.000809/3 (TWINSUK)
                T=0.001873/1 (MGP)
                T=0.003579/899 (GnomAD_exomes)
                T=0.004239/514 (ExAC)
                T=0.00463/1 (Qatari)
                T=0.013379/67 (1000Genomes)
                T=0.013442/1885 (GnomAD)
                T=0.013699/3626 (TOPMED)
                T=0.014762/192 (GoESP)
                HGVS:
                9.

                rs34825616 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  6:2838610 (GRCh38)
                  6:2838844 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:2838609:G:A
                  Gene:
                  SERPINB1 (Varview)
                  Functional Consequence:
                  missense_variant,non_coding_transcript_variant,coding_sequence_variant
                  Clinical significance:
                  benign
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.001875/400 (ALFA)
                  A=0.000259/1 (ALSPAC)
                  A=0.00027/1 (TWINSUK)
                  A=0.003245/806 (GnomAD_exomes)
                  A=0.004052/490 (ExAC)
                  A=0.00463/1 (Qatari)
                  A=0.013383/1876 (GnomAD)
                  A=0.013455/175 (GoESP)
                  A=0.014254/3773 (TOPMED)
                  A=0.014776/74 (1000Genomes)
                  A=0.021283/1675 (PAGE_STUDY)
                  G=0.5/5 (SGDP_PRJ)
                  HGVS:
                  10.

                  rs35617833 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    6:2948679 (GRCh38)
                    6:2948913 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:2948678:G:A
                    Gene:
                    SERPINB6 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                    Clinical significance:
                    uncertain-significance
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000238/15 (ALFA)
                    A=0.000215/54 (GnomAD_exomes)
                    A=0.000231/28 (ExAC)
                    A=0.000599/3 (1000Genomes)
                    A=0.000699/98 (GnomAD)
                    A=0.000748/198 (TOPMED)
                    A=0.000769/10 (GoESP)
                    HGVS:
                    11.

                    rs35717904 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      6:1612841 (GRCh38)
                      6:1613076 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:1612840:A:T
                      Gene:
                      FOXC1 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Clinical significance:
                      pathogenic
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.003547/67 (ALFA)
                      T=0.000893/4 (Estonian)
                      T=0.002196/11 (1000Genomes)
                      T=0.003006/3 (GoNL)
                      T=0.003565/500 (GnomAD)
                      T=0.003872/1025 (TOPMED)
                      T=0.005968/23 (ALSPAC)
                      T=0.007821/29 (TWINSUK)
                      T=0.009363/5 (MGP)
                      T=0.011667/7 (NorthernSweden)
                      A=0.5/1 (SGDP_PRJ)
                      HGVS:
                      12.

                      rs35826070 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        6:2955596 (GRCh38)
                        6:2955830 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:2955595:G:A
                        Gene:
                        SERPINB6 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                        Clinical significance:
                        benign
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.002031/114 (ALFA)
                        A=0.001002/1 (GoNL)
                        A=0.00233/586 (GnomAD_exomes)
                        A=0.002893/351 (ExAC)
                        A=0.00463/1 (Qatari)
                        A=0.009567/1342 (GnomAD)
                        A=0.010042/2658 (TOPMED)
                        A=0.010184/51 (1000Genomes)
                        A=0.010226/133 (GoESP)
                        G=0.5/1 (SGDP_PRJ)
                        HGVS:
                        13.

                        rs35974174 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C,T [Show Flanks]
                          Chromosome:
                          6:1610652 (GRCh38)
                          6:1610887 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:1610651:G:A,NC_000006.12:1610651:G:C,NC_000006.12:1610651:G:T
                          Gene:
                          FOXC1 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Clinical significance:
                          benign
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000208/3 (ALFA)
                          A=0.00006/1 (TOMMO)
                          T=0.00028/70 (GnomAD_exomes)
                          T=0.000334/39 (ExAC)
                          T=0.000769/10 (GoESP)
                          T=0.001009/267 (TOPMED)
                          T=0.001997/10 (1000Genomes)
                          G=0.5/1 (SGDP_PRJ)
                          HGVS:
                          14.

                          rs61737420 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            6:2948393 (GRCh38)
                            6:2948627 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:2948392:C:T
                            Gene:
                            SERPINB6 (Varview)
                            Functional Consequence:
                            missense_variant,non_coding_transcript_variant,coding_sequence_variant
                            Clinical significance:
                            benign,benign-likely-benign
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000461/94 (ALFA)
                            T=0./0 (TWINSUK)
                            T=0.000519/2 (ALSPAC)
                            T=0.000943/237 (GnomAD_exomes)
                            T=0.001047/127 (ExAC)
                            T=0.002739/9 (PRJEB37766)
                            T=0.003395/17 (1000Genomes)
                            T=0.003937/552 (GnomAD)
                            T=0.004103/1086 (TOPMED)
                            T=0.004152/54 (GoESP)
                            T=0.005921/466 (PAGE_STUDY)
                            HGVS:
                            NC_000006.12:g.2948393C>T, NC_000006.11:g.2948627C>T, NG_027692.1:g.28773G>A, NM_004568.5:c.1036G>A, NM_004568.6:c.1036G>A, NM_001195291.2:c.1048G>A, NM_001195291.3:c.1048G>A, NM_001271822.2:c.1078G>A, NM_001271822.1:c.1078G>A, NM_001271825.2:c.1036G>A, NM_001271825.1:c.1036G>A, NM_001297699.1:c.1036G>A, NM_001297699.2:c.1036G>A, NM_001271824.1:c.1036G>A, NM_001271824.2:c.1036G>A, NM_001297700.1:c.1036G>A, NM_001297700.2:c.1036G>A, NM_001271823.1:c.1093G>A, NM_001271823.2:c.1093G>A, XM_017010941.1:c.904G>A, XM_024446464.1:c.1036G>A, XM_011514672.1:c.1270G>A, XM_024446465.1:c.904G>A, NM_001374515.1:c.1048G>A, XM_024446462.1:c.1048G>A, XM_017010940.1:c.1048G>A, NM_001374517.1:c.904G>A, NR_164657.1:n.1085G>A, NM_001374516.1:c.1036G>A, NP_004559.4:p.Val346Ile, NP_001182220.2:p.Val350Ile, NP_001258751.1:p.Val360Ile, NP_001258754.1:p.Val346Ile, NP_001284628.1:p.Val346Ile, NP_001258753.1:p.Val346Ile, NP_001284629.1:p.Val346Ile, NP_001258752.1:p.Val365Ile, XP_016866430.1:p.Val302Ile, XP_024302232.1:p.Val346Ile, XP_011512974.1:p.Val424Ile, XP_024302233.1:p.Val302Ile, NP_001361444.1:p.Val350Ile, XP_024302230.1:p.Val350Ile, XP_016866429.1:p.Val350Ile, NP_001361446.1:p.Val302Ile, NP_001361445.1:p.Val346Ile
                            15.

                            rs73406891 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              6:1612008 (GRCh38)
                              6:1612243 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:1612007:T:G
                              Gene:
                              FOXC1 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              Clinical significance:
                              benign
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.011753/692 (ALFA)
                              G=0.005618/3 (MGP)
                              G=0.007772/1925 (GnomAD_exomes)
                              G=0.009716/1076 (ExAC)
                              G=0.027778/6 (Qatari)
                              G=0.031747/4449 (GnomAD)
                              G=0.031949/160 (1000Genomes)
                              G=0.033163/8778 (TOPMED)
                              G=0.035077/456 (GoESP)
                              T=0.454545/10 (SGDP_PRJ)
                              HGVS:
                              16.

                              rs76166083 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                6:1611898 (GRCh38)
                                6:1612133 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:1611897:T:C
                                Gene:
                                FOXC1 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant
                                Clinical significance:
                                benign
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000539/24 (ALFA)
                                C=0.000628/93 (GnomAD_exomes)
                                C=0.00094/9 (GoESP)
                                C=0.001096/14 (ExAC)
                                C=0.002248/595 (TOPMED)
                                C=0.002588/335 (GnomAD)
                                C=0.003794/19 (1000Genomes)
                                HGVS:
                                17.

                                rs76840944 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  GCGGCGGCG>-,GCG,GCGGCG,GCGGCGGCGGCG,GCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCG [Show Flanks]
                                  Chromosome:
                                  6:1611578 (GRCh38)
                                  6:1611813 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:1611567:GGCGGCGGCGGCGGCGGCG:GGCGGCGGCG,NC_000006.12:1611567:GGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCG,NC_000006.12:1611567:GGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCG,NC_000006.12:1611567:GGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCG,NC_000006.12:1611567:GGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCG,NC_000006.12:1611567:GGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000006.12:1611567:GGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000006.12:1611567:GGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG
                                  Gene:
                                  FOXC1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,inframe_insertion,inframe_deletion
                                  Clinical significance:
                                  uncertain-significance,benign
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  GGCGGCGGCGGCG=0./0 (ALFA)
                                  GGCGGCGGCGGCGGC=0.000004/1 (TOPMED)
                                  GGC=0.138889/5 (GENOME_DK)
                                  GGC=0.152157/762 (1000Genomes)
                                  GGC=0.160112/57 (GoESP)
                                  GGC=0.273333/164 (NorthernSweden)
                                  HGVS:
                                  NC_000006.12:g.1611569GCG[3], NC_000006.12:g.1611569GCG[4], NC_000006.12:g.1611569GCG[5], NC_000006.12:g.1611569GCG[7], NC_000006.12:g.1611569GCG[8], NC_000006.12:g.1611569GCG[9], NC_000006.12:g.1611569GCG[10], NC_000006.12:g.1611569GCG[11], NC_000006.11:g.1611804GCG[3], NC_000006.11:g.1611804GCG[4], NC_000006.11:g.1611804GCG[5], NC_000006.11:g.1611804GCG[7], NC_000006.11:g.1611804GCG[8], NC_000006.11:g.1611804GCG[9], NC_000006.11:g.1611804GCG[10], NC_000006.11:g.1611804GCG[11], NG_009368.1:g.6124GCG[3], NG_009368.1:g.6124GCG[4], NG_009368.1:g.6124GCG[5], NG_009368.1:g.6124GCG[7], NG_009368.1:g.6124GCG[8], NG_009368.1:g.6124GCG[9], NG_009368.1:g.6124GCG[10], NG_009368.1:g.6124GCG[11], NM_001453.3:c.1124GCG[3], NM_001453.3:c.1124GCG[4], NM_001453.3:c.1124GCG[5], NM_001453.3:c.1124GCG[7], NM_001453.3:c.1124GCG[8], NM_001453.3:c.1124GCG[9], NM_001453.3:c.1124GCG[10], NM_001453.3:c.1124GCG[11], NM_001453.2:c.1124GCG[3], NM_001453.2:c.1124GCG[4], NM_001453.2:c.1124GCG[5], NM_001453.2:c.1124GCG[7], NM_001453.2:c.1124GCG[8], NM_001453.2:c.1124GCG[9], NM_001453.2:c.1124GCG[10], NM_001453.2:c.1124GCG[11], NP_001444.2:p.Gly378_Gly380del, NP_001444.2:p.Gly379_Gly380del, NP_001444.2:p.Gly380del, NP_001444.2:p.Gly380dup, NP_001444.2:p.Gly379_Gly380dup, NP_001444.2:p.Gly378_Gly380dup, NP_001444.2:p.Gly377_Gly380dup, NP_001444.2:p.Gly376_Gly380dup
                                  18.

                                  rs77289107 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    6:2768731 (GRCh38)
                                    6:2768965 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:2768730:A:G
                                    Gene:
                                    WRNIP1 (Varview), MYLK4 (Varview)
                                    Functional Consequence:
                                    intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                    Clinical significance:
                                    benign
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.008079/1782 (ALFA)
                                    G=0.002414/190 (PAGE_STUDY)
                                    G=0.003594/18 (1000Genomes)
                                    G=0.004874/1290 (TOPMED)
                                    G=0.005228/68 (GoESP)
                                    G=0.005618/3 (MGP)
                                    G=0.006027/27 (Estonian)
                                    G=0.006579/2 (FINRISK)
                                    G=0.006666/935 (GnomAD)
                                    G=0.006694/1678 (GnomAD_exomes)
                                    G=0.006801/822 (ExAC)
                                    G=0.011597/43 (TWINSUK)
                                    G=0.012195/47 (ALSPAC)
                                    G=0.013333/8 (NorthernSweden)
                                    G=0.023046/23 (GoNL)
                                    A=0.5/1 (SGDP_PRJ)
                                    HGVS:
                                    19.

                                    rs77888940 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,G,T [Show Flanks]
                                      Chromosome:
                                      6:1610017 (GRCh38)
                                      6:1610252 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:1610016:C:A,NC_000006.12:1610016:C:G,NC_000006.12:1610016:C:T
                                      Gene:
                                      FOXC1 (Varview)
                                      Functional Consequence:
                                      5_prime_UTR_variant
                                      Clinical significance:
                                      pathogenic
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000348/92 (TOPMED)
                                      A=0.000747/11 (TOMMO)
                                      C=0.5/1 (SGDP_PRJ)
                                      HGVS:
                                      20.

                                      rs78197478 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        6:2766396 (GRCh38)
                                        6:2766630 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:2766395:C:G,NC_000006.12:2766395:C:T
                                        Gene:
                                        WRNIP1 (Varview), MYLK4 (Varview)
                                        Functional Consequence:
                                        intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,upstream_transcript_variant
                                        Clinical significance:
                                        likely-benign
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000982/44 (ALFA)
                                        G=0.0002/1 (1000Genomes)
                                        G=0.000684/96 (GnomAD)
                                        G=0.000729/193 (TOPMED)
                                        G=0.000767/55 (ExAC)
                                        G=0.000809/3 (TWINSUK)
                                        G=0.000847/11 (GoESP)
                                        G=0.001667/1 (NorthernSweden)
                                        G=0.002004/2 (GoNL)
                                        G=0.002076/8 (ALSPAC)
                                        HGVS:

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