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Items: 1 to 20 of 45

1.

rs1380251 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    1:221395833 (GRCh38)
    1:221569175 (GRCh37)
    Canonical SPDI:
    NC_000001.11:221395832:G:A
    Gene:
    LOC105372932 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.064026/1652 (ALFA)
    A=0.025/1 (GENOME_DK)
    A=0.042188/189 (Estonian)
    A=0.042453/9 (Vietnamese)
    A=0.049258/93 (HapMap)
    A=0.050396/845 (TOMMO)
    A=0.054185/271 (1000Genomes)
    A=0.058333/35 (NorthernSweden)
    A=0.058811/8244 (GnomAD)
    A=0.063852/16901 (TOPMED)
    A=0.069138/69 (GoNL)
    A=0.070415/129 (Korea1K)
    A=0.075427/221 (KOREAN)
    A=0.076321/283 (TWINSUK)
    A=0.079872/50 (Chileans)
    A=0.081733/315 (ALSPAC)
    A=0.208333/45 (Qatari)
    G=0.486111/35 (SGDP_PRJ)
    G=0.5/3 (Siberian)
    HGVS:
    2.

    rs4562724 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      10:116218138 (GRCh38)
      10:117977650 (GRCh37)
      Canonical SPDI:
      NC_000010.11:116218137:C:A,NC_000010.11:116218137:C:T
      Gene:
      GFRA1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.339265/7035 (ALFA)
      T=0.310185/67 (Qatari)
      C=0.341954/119 (SGDP_PRJ)
      T=0.382573/1916 (1000Genomes)
      T=0.39482/747 (HapMap)
      T=0.404541/107078 (TOPMED)
      C=0.411765/14 (Siberian)
      C=0.439956/806 (Korea1K)
      T=0.45/18 (GENOME_DK)
      C=0.45529/1334 (KOREAN)
      T=0.460042/1773 (ALSPAC)
      C=0.46729/100 (Vietnamese)
      C=0.471667/283 (NorthernSweden)
      T=0.472492/1752 (TWINSUK)
      T=0.482358/2160 (Estonian)
      T=0.483968/483 (GoNL)
      C=0.486128/8148 (TOMMO)
      HGVS:
      3.

      rs3806052 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C,T [Show Flanks]
        Chromosome:
        6:70176892 (GRCh38)
        6:70886784 (GRCh37)
        Canonical SPDI:
        NC_000006.12:70176891:A:C,NC_000006.12:70176891:A:T
        Gene:
        COL19A1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.423107/10873 (ALFA)
        C=0.257009/55 (Vietnamese)
        A=0.308743/113 (SGDP_PRJ)
        C=0.324782/595 (Korea1K)
        C=0.338807/5678 (TOMMO)
        C=0.341297/1000 (KOREAN)
        A=0.388889/14 (Siberian)
        C=0.389732/1746 (Estonian)
        C=0.4/16 (GENOME_DK)
        C=0.405372/2030 (1000Genomes)
        C=0.424419/803 (HapMap)
        C=0.424833/112449 (TOPMED)
        C=0.429165/1654 (ALSPAC)
        C=0.430335/60246 (GnomAD)
        C=0.443333/266 (NorthernSweden)
        C=0.452265/1677 (TWINSUK)
        C=0.458918/458 (GoNL)
        A=0.462963/100 (Qatari)
        HGVS:
        4.

        rs3182340 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          4:83456050 (GRCh38)
          4:84377203 (GRCh37)
          Canonical SPDI:
          NC_000004.12:83456049:C:G,NC_000004.12:83456049:C:T
          Gene:
          MRPS18C (Varview), HELQ (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.041401/1248 (ALFA)
          T=0.000446/2 (Estonian)
          T=0.001038/4 (ALSPAC)
          T=0.001618/6 (TWINSUK)
          T=0.005618/3 (MGP)
          T=0.01278/8 (Chileans)
          T=0.021739/2 (PRJEB36033)
          T=0.032885/8261 (GnomAD_exomes)
          T=0.040617/4928 (ExAC)
          T=0.097222/21 (Qatari)
          T=0.132697/18577 (GnomAD)
          T=0.139333/36880 (TOPMED)
          T=0.143036/716 (1000Genomes)
          T=0.143395/1865 (GoESP)
          T=0.243691/309 (HapMap)
          C=0.384615/30 (SGDP_PRJ)
          HGVS:
          5.

          rs2861913 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            2:79965309 (GRCh38)
            2:80192435 (GRCh37)
            Canonical SPDI:
            NC_000002.12:79965308:A:G
            Gene:
            CTNNA2 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.326175/48150 (ALFA)
            G=0.018692/4 (Vietnamese)
            G=0.149563/274 (Korea1K)
            G=0.155715/455 (KOREAN)
            G=0.185682/3112 (TOMMO)
            G=0.203704/44 (Qatari)
            G=0.214085/1072 (1000Genomes)
            G=0.244715/463 (HapMap)
            G=0.25/284 (Daghestan)
            G=0.279603/74008 (TOPMED)
            G=0.288549/40424 (GnomAD)
            G=0.31/186 (NorthernSweden)
            G=0.327679/1468 (Estonian)
            G=0.335491/1244 (TWINSUK)
            G=0.344689/344 (GoNL)
            G=0.347172/1338 (ALSPAC)
            G=0.375/15 (GENOME_DK)
            A=0.432292/83 (SGDP_PRJ)
            A=0.5/16 (Siberian)
            HGVS:
            6.

            rs2835731 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              21:37424426 (GRCh38)
              21:38796728 (GRCh37)
              Canonical SPDI:
              NC_000021.9:37424425:C:G,NC_000021.9:37424425:C:T
              Gene:
              DYRK1A (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.113357/17035 (ALFA)
              T=0.001638/3 (Korea1K)
              T=0.011112/186 (TOMMO)
              T=0.064815/14 (Qatari)
              T=0.06869/43 (Chileans)
              T=0.101202/101 (GoNL)
              T=0.11192/415 (TWINSUK)
              T=0.116243/448 (ALSPAC)
              T=0.123333/74 (NorthernSweden)
              T=0.132105/662 (1000Genomes)
              T=0.149107/668 (Estonian)
              T=0.15/6 (GENOME_DK)
              T=0.165949/43925 (TOPMED)
              T=0.173318/24243 (GnomAD)
              T=0.201346/329 (HapMap)
              C=0.381579/29 (SGDP_PRJ)
              C=0.5/8 (Siberian)
              HGVS:
              7.

              rs2813838 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                7:24109673 (GRCh38)
                7:24149292 (GRCh37)
                Canonical SPDI:
                NC_000007.14:24109672:C:G
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.459555/8681 (ALFA)
                C=0.32381/136 (SGDP_PRJ)
                C=0.409091/18 (Siberian)
                C=0.435154/1275 (KOREAN)
                C=0.440689/7385 (TOMMO)
                G=0.443925/95 (Vietnamese)
                C=0.450893/2020 (Estonian)
                C=0.452906/452 (GoNL)
                C=0.463108/122580 (TOPMED)
                C=0.463333/278 (NorthernSweden)
                C=0.464353/64988 (GnomAD)
                C=0.467098/1732 (TWINSUK)
                C=0.468604/1806 (ALSPAC)
                G=0.475/19 (GENOME_DK)
                C=0.481992/910 (HapMap)
                G=0.49537/107 (Qatari)
                C=0.497189/2490 (1000Genomes)
                HGVS:
                8.

                rs2540226 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C,G [Show Flanks]
                  Chromosome:
                  2:39731920 (GRCh38)
                  2:39959060 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:39731919:A:C,NC_000002.12:39731919:A:G
                  Gene:
                  TMEM178A (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.492834/91338 (ALFA)
                  A=0.198294/581 (KOREAN)
                  A=0.20283/43 (Vietnamese)
                  A=0.244493/111 (SGDP_PRJ)
                  A=0.246173/193 (PRJEB37584)
                  A=0.259259/14 (Siberian)
                  A=0.285158/4779 (TOMMO)
                  A=0.348188/27401 (PAGE_STUDY)
                  A=0.367739/1842 (1000Genomes)
                  A=0.375/15 (GENOME_DK)
                  A=0.387949/734 (HapMap)
                  A=0.420666/111346 (TOPMED)
                  A=0.428333/257 (NorthernSweden)
                  A=0.43454/60806 (GnomAD)
                  A=0.439955/1971 (Estonian)
                  C=0.462963/100 (Qatari)
                  C=0.472222/34 (PRJEB36033)
                  C=0.479242/1847 (ALSPAC)
                  C=0.480583/1782 (TWINSUK)
                  A=0.493988/493 (GoNL)
                  HGVS:
                  9.

                  rs2039528 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    1:43494859 (GRCh38)
                    1:43960530 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:43494858:A:G
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.361003/7441 (ALFA)
                    G=0.25463/55 (Qatari)
                    G=0.315/189 (NorthernSweden)
                    A=0.33237/115 (SGDP_PRJ)
                    A=0.340909/15 (Siberian)
                    G=0.351438/220 (Chileans)
                    A=0.355895/652 (Korea1K)
                    G=0.359269/95095 (TOPMED)
                    G=0.360302/1336 (TWINSUK)
                    G=0.360924/1391 (ALSPAC)
                    A=0.361092/1058 (KOREAN)
                    G=0.361908/50683 (GnomAD)
                    G=0.381764/381 (GoNL)
                    G=0.393304/1762 (Estonian)
                    G=0.396296/749 (HapMap)
                    G=0.4/16 (GENOME_DK)
                    G=0.407245/2039 (1000Genomes)
                    A=0.443396/94 (Vietnamese)
                    A=0.452969/7592 (TOMMO)
                    HGVS:
                    10.

                    rs1861243 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      2:39729696 (GRCh38)
                      2:39956836 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:39729695:T:C
                      Gene:
                      TMEM178A (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.432292/8166 (ALFA)
                      T=0.125/229 (Korea1K)
                      T=0.127645/374 (KOREAN)
                      T=0.142857/30 (Vietnamese)
                      T=0.206009/96 (SGDP_PRJ)
                      T=0.226343/3794 (TOMMO)
                      T=0.240741/13 (Siberian)
                      T=0.288882/1447 (1000Genomes)
                      T=0.292683/96 (HapMap)
                      T=0.358091/94783 (TOPMED)
                      T=0.375/15 (GENOME_DK)
                      C=0.378378/28 (PRJEB36033)
                      T=0.378892/53051 (GnomAD)
                      T=0.43/258 (NorthernSweden)
                      T=0.440625/1974 (Estonian)
                      T=0.458333/99 (Qatari)
                      C=0.48028/1851 (ALSPAC)
                      C=0.483279/1792 (TWINSUK)
                      T=0.486974/486 (GoNL)
                      HGVS:
                      11.

                      rs1849710 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        12:101128300 (GRCh38)
                        12:101522078 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:101128299:C:G
                        Gene:
                        ANO4 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.129137/2466 (ALFA)
                        G=0.1/4 (GENOME_DK)
                        G=0.101786/456 (Estonian)
                        G=0.122642/26 (Vietnamese)
                        G=0.132357/18545 (GnomAD)
                        G=0.135683/35914 (TOPMED)
                        G=0.145066/726 (1000Genomes)
                        G=0.147239/48 (HapMap)
                        G=0.156667/94 (NorthernSweden)
                        G=0.158018/609 (ALSPAC)
                        G=0.159385/591 (TWINSUK)
                        G=0.161323/161 (GoNL)
                        G=0.185393/99 (MGP)
                        G=0.203411/3409 (TOMMO)
                        G=0.208077/608 (KOREAN)
                        G=0.24537/53 (Qatari)
                        C=0.43662/62 (SGDP_PRJ)
                        C=0.5/7 (Siberian)
                        HGVS:
                        NC_000012.12:g.101128300C>G, NC_000012.11:g.101522078C>G, NW_003315942.2:g.136173G>C, NM_178826.4:c.*444C>G, NM_178826.3:c.*444C>G, XM_011537912.3:c.*448C>G, XM_011537912.2:c.*448C>G, XM_011537912.1:c.*448C>G, XM_011537913.3:c.*444C>G, XM_011537913.2:c.*444C>G, XM_011537913.1:c.*444C>G, XM_011537911.3:c.*444C>G, XM_011537911.2:c.*444C>G, XM_011537911.1:c.*444C>G, XM_011537915.3:c.*444C>G, XM_011537915.2:c.*444C>G, XM_011537915.1:c.*444C>G, XM_011537916.3:c.*444C>G, XM_011537916.2:c.*444C>G, XM_011537916.1:c.*444C>G, NM_001286615.2:c.*444C>G, NM_001286615.1:c.*444C>G, XM_024448842.2:c.*444C>G, XM_024448842.1:c.*444C>G, XM_024448841.2:c.*444C>G, XM_024448841.1:c.*444C>G, XM_047428302.1:c.*448C>G, XM_047428305.1:c.*448C>G, XM_047428303.1:c.*444C>G, XM_047428307.1:c.*448C>G, XM_047428306.1:c.*444C>G, XM_047428308.1:c.*448C>G, NM_001286616.1:c.*448C>G
                        12.

                        rs1801260 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          4:55435202 (GRCh38)
                          4:56301369 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:55435201:A:G
                          Gene:
                          CLOCK (Varview), TMEM165 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.268097/69998 (ALFA)
                          G=0.087963/19 (Vietnamese)
                          G=0.092405/73 (PRJEB37584)
                          G=0.1013/296 (KOREAN)
                          G=0.170925/2865 (TOMMO)
                          G=0.2/8 (GENOME_DK)
                          G=0.200694/15795 (PAGE_STUDY)
                          G=0.225687/427 (HapMap)
                          G=0.226306/59901 (TOPMED)
                          G=0.227826/1141 (1000Genomes)
                          G=0.242754/34006 (GnomAD)
                          G=0.256667/154 (NorthernSweden)
                          G=0.268608/996 (TWINSUK)
                          G=0.269539/269 (GoNL)
                          G=0.271536/145 (MGP)
                          G=0.27452/1058 (ALSPAC)
                          G=0.319444/69 (Qatari)
                          G=0.352232/1578 (Estonian)
                          A=0.4/8 (Siberian)
                          A=0.405983/95 (SGDP_PRJ)
                          HGVS:
                          13.

                          rs4783307 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C,T [Show Flanks]
                            Chromosome:
                            16:83043029 (GRCh38)
                            16:83076634 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:83043028:G:A,NC_000016.10:83043028:G:C,NC_000016.10:83043028:G:T
                            Gene:
                            CDH13 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.427178/57605 (ALFA)
                            C=0./0 (KOREAN)
                            G=0.311881/126 (SGDP_PRJ)
                            T=0.345048/216 (Chileans)
                            T=0.36/216 (NorthernSweden)
                            G=0.366667/11 (Siberian)
                            T=0.406072/1565 (ALSPAC)
                            T=0.410268/1838 (Estonian)
                            T=0.420842/420 (GoNL)
                            T=0.4226/1567 (TWINSUK)
                            T=0.425/17 (GENOME_DK)
                            G=0.435185/94 (Qatari)
                            G=0.444869/815 (Korea1K)
                            T=0.457944/98 (Vietnamese)
                            G=0.464187/7780 (TOMMO)
                            T=0.466541/65298 (GnomAD)
                            T=0.475796/2383 (1000Genomes)
                            T=0.478526/126661 (TOPMED)
                            G=0.489958/927 (HapMap)
                            HGVS:
                            14.

                            rs1159275 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              1:195680112 (GRCh38)
                              1:195649242 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:195680111:G:T
                              Gene:
                              LOC105371671 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.252043/6476 (ALFA)
                              G=0.173437/777 (Estonian)
                              G=0.175/7 (GENOME_DK)
                              G=0.175351/175 (GoNL)
                              G=0.177478/684 (ALSPAC)
                              G=0.180421/669 (TWINSUK)
                              G=0.205/123 (NorthernSweden)
                              G=0.24115/109 (SGDP_PRJ)
                              G=0.293469/41078 (GnomAD)
                              G=0.317126/83940 (TOPMED)
                              G=0.32/16 (Siberian)
                              G=0.388242/733 (HapMap)
                              G=0.390381/1955 (1000Genomes)
                              G=0.430556/93 (Qatari)
                              T=0.435044/797 (Korea1K)
                              T=0.439252/94 (Vietnamese)
                              T=0.445109/7460 (TOMMO)
                              T=0.459386/1346 (KOREAN)
                              HGVS:
                              15.

                              rs1037791 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                7:16785037 (GRCh38)
                                7:16824662 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:16785036:G:A,NC_000007.14:16785036:G:C
                                Gene:
                                TSPAN13 (Varview)
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.254516/62130 (ALFA)
                                G=0.148148/32 (Qatari)
                                G=0.192308/95 (SGDP_PRJ)
                                G=0.211538/11 (Siberian)
                                G=0.225451/225 (GoNL)
                                G=0.242409/4062 (TOMMO)
                                G=0.250649/966 (ALSPAC)
                                G=0.257012/953 (TWINSUK)
                                G=0.2631/482 (Korea1K)
                                G=0.266795/556 (HGDP_Stanford)
                                G=0.268601/787 (KOREAN)
                                G=0.281667/169 (NorthernSweden)
                                G=0.284903/75411 (TOPMED)
                                G=0.287179/224 (PRJEB37584)
                                G=0.287946/1290 (Estonian)
                                G=0.292942/1467 (1000Genomes)
                                G=0.293668/41110 (GnomAD)
                                G=0.293869/556 (HapMap)
                                G=0.3/12 (GENOME_DK)
                                G=0.306752/24142 (PAGE_STUDY)
                                G=0.325472/69 (Vietnamese)
                                G=0.363636/8 (PRJEB36033)
                                HGVS:
                                16.

                                rs928114 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  9:87563891 (GRCh38)
                                  9:90178806 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:87563890:C:G
                                  Gene:
                                  DAPK1 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.133139/2515 (ALFA)
                                  G=0.025/1 (GENOME_DK)
                                  G=0.091136/146 (HapMap)
                                  G=0.094345/1581 (TOMMO)
                                  G=0.106507/311 (KOREAN)
                                  G=0.112742/565 (1000Genomes)
                                  G=0.113918/30153 (TOPMED)
                                  G=0.114257/16011 (GnomAD)
                                  G=0.116812/214 (Korea1K)
                                  G=0.144231/30 (Vietnamese)
                                  G=0.144283/535 (TWINSUK)
                                  G=0.148158/571 (ALSPAC)
                                  G=0.155311/155 (GoNL)
                                  G=0.166667/36 (Qatari)
                                  G=0.16875/756 (Estonian)
                                  G=0.188333/113 (NorthernSweden)
                                  G=0.216216/16 (PRJEB36033)
                                  C=0.440789/67 (SGDP_PRJ)
                                  C=0.458333/11 (Siberian)
                                  HGVS:
                                  17.

                                  rs904208 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    5:144091362 (GRCh38)
                                    5:143470927 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:144091361:C:A
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.357449/9175 (ALFA)
                                    A=0.150943/32 (Vietnamese)
                                    A=0.202511/371 (Korea1K)
                                    A=0.205119/601 (KOREAN)
                                    A=0.215903/3619 (TOMMO)
                                    A=0.270536/1212 (Estonian)
                                    A=0.27476/172 (Chileans)
                                    A=0.296667/178 (NorthernSweden)
                                    A=0.320446/1235 (ALSPAC)
                                    A=0.321737/1193 (TWINSUK)
                                    A=0.325/13 (GENOME_DK)
                                    A=0.348697/348 (GoNL)
                                    C=0.359375/115 (SGDP_PRJ)
                                    A=0.41617/58248 (GnomAD)
                                    A=0.420583/111324 (TOPMED)
                                    A=0.438944/2198 (1000Genomes)
                                    A=0.456038/778 (HapMap)
                                    C=0.473684/18 (Siberian)
                                    C=0.490741/106 (Qatari)
                                    HGVS:
                                    18.

                                    rs644148 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C,T [Show Flanks]
                                      Chromosome:
                                      19:44466713 (GRCh38)
                                      19:44970935 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:44466712:G:A,NC_000019.10:44466712:G:C,NC_000019.10:44466712:G:T
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.367731/14354 (ALFA)
                                      C=0./0 (KOREAN)
                                      T=0.179585/329 (Korea1K)
                                      T=0.220859/72 (HapMap)
                                      T=0.242126/6842 (TOMMO)
                                      T=0.259213/1660 (1000Genomes)
                                      T=0.292848/77514 (TOPMED)
                                      T=0.295618/41380 (GnomAD)
                                      HGVS:
                                      19.

                                      rs602041 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A,G [Show Flanks]
                                        Chromosome:
                                        11:60011390 (GRCh38)
                                        11:59778863 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:60011389:T:A,NC_000011.10:60011389:T:G
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.123102/2610 (ALFA)
                                        G=0.135/81 (NorthernSweden)
                                        G=0.149299/149 (GoNL)
                                        G=0.15/6 (GENOME_DK)
                                        G=0.162037/35 (Qatari)
                                        G=0.173214/776 (Estonian)
                                        G=0.229521/60752 (TOPMED)
                                        G=0.266773/167 (Chileans)
                                        G=0.307933/1542 (1000Genomes)
                                        G=0.32381/612 (HapMap)
                                        T=0.358108/106 (SGDP_PRJ)
                                        G=0.412037/89 (Vietnamese)
                                        T=0.416667/5 (Siberian)
                                        T=0.497952/1459 (KOREAN)
                                        HGVS:
                                        20.

                                        rs586281 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          1:186230352 (GRCh38)
                                          1:186199484 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:186230351:G:A
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.191953/3626 (ALFA)
                                          A=0.108874/319 (KOREAN)
                                          A=0.115854/38 (HapMap)
                                          A=0.122111/612 (1000Genomes)
                                          A=0.126168/27 (Vietnamese)
                                          A=0.137285/36338 (TOPMED)
                                          A=0.152534/2556 (TOMMO)
                                          A=0.152778/33 (Qatari)
                                          A=0.156704/21952 (GnomAD)
                                          A=0.157895/12 (PRJEB36033)
                                          A=0.2/8 (GENOME_DK)
                                          A=0.222626/858 (ALSPAC)
                                          A=0.22438/832 (TWINSUK)
                                          A=0.224449/224 (GoNL)
                                          A=0.258705/1159 (Estonian)
                                          A=0.303333/182 (NorthernSweden)
                                          G=0.333333/8 (Siberian)
                                          G=0.438356/64 (SGDP_PRJ)
                                          HGVS:

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