U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Search results

Items: 1 to 20 of 917

1.

rs3102206 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    13:61199319 (GRCh38)
    13:61773453 (GRCh37)
    Canonical SPDI:
    NC_000013.11:61199318:C:T
    Gene:
    MIR3169 (Varview)
    Functional Consequence:
    500B_downstream_variant,downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.436316/8242 (ALFA)
    T=0.2/8 (GENOME_DK)
    T=0.226415/48 (Vietnamese)
    C=0.264706/9 (Siberian)
    C=0.306452/114 (SGDP_PRJ)
    T=0.339509/1521 (Estonian)
    T=0.378827/1460 (ALSPAC)
    T=0.38/228 (NorthernSweden)
    T=0.384574/1426 (TWINSUK)
    T=0.38978/389 (GoNL)
    T=0.409934/751 (Korea1K)
    T=0.413793/6934 (TOMMO)
    T=0.422867/1239 (KOREAN)
    T=0.449074/97 (Qatari)
    C=0.480619/127215 (TOPMED)
    C=0.484072/2424 (1000Genomes)
    C=0.496022/69074 (GnomAD)
    HGVS:
    2.

    rs3102207 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,G,T [Show Flanks]
      Chromosome:
      13:61199516 (GRCh38)
      13:61773650 (GRCh37)
      Canonical SPDI:
      NC_000013.11:61199515:C:A,NC_000013.11:61199515:C:G,NC_000013.11:61199515:C:T
      Gene:
      MIR3169 (Varview)
      Functional Consequence:
      500B_downstream_variant,downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      C=0.222222/8 (Siberian)
      C=0.290698/125 (SGDP_PRJ)
      T=0.3/12 (GENOME_DK)
      T=0.313084/67 (Vietnamese)
      C=0.40286/106633 (TOPMED)
      C=0.404747/2027 (1000Genomes)
      T=0.448884/1730 (ALSPAC)
      T=0.454693/1686 (TWINSUK)
      T=0.455912/455 (GoNL)
      T=0.466071/2088 (Estonian)
      T=0.47/282 (NorthernSweden)
      T=0.48417/887 (Korea1K)
      T=0.489078/1433 (KOREAN)
      T=0.490301/8216 (TOMMO)
      T=0.490741/106 (Qatari)
      HGVS:
      3.

      rs9528300 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        13:61200286 (GRCh38)
        13:61774420 (GRCh37)
        Canonical SPDI:
        NC_000013.11:61200285:A:G
        Gene:
        MIR3169 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0./0 (HapMap)
        G=0.000026/7 (TOPMED)
        G=0.000043/6 (GnomAD)
        HGVS:
        4.

        rs9570501 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          13:61201397 (GRCh38)
          13:61775531 (GRCh37)
          Canonical SPDI:
          NC_000013.11:61201396:T:G
          Gene:
          MIR3169 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.05262/994 (ALFA)
          G=0.025/1 (GENOME_DK)
          G=0.031062/31 (GoNL)
          G=0.031667/19 (NorthernSweden)
          G=0.033472/129 (ALSPAC)
          G=0.033981/126 (TWINSUK)
          G=0.037037/8 (Qatari)
          G=0.052902/237 (Estonian)
          G=0.05398/14288 (TOPMED)
          G=0.058033/8124 (GnomAD)
          G=0.064164/188 (KOREAN)
          G=0.064803/325 (1000Genomes)
          G=0.070122/23 (HapMap)
          G=0.076155/1276 (TOMMO)
          G=0.080189/17 (Vietnamese)
          T=0.4875/39 (SGDP_PRJ)
          T=0.5/3 (Siberian)
          HGVS:
          5.

          rs11840132 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            13:61201626 (GRCh38)
            13:61775760 (GRCh37)
            Canonical SPDI:
            NC_000013.11:61201625:G:A,NC_000013.11:61201625:G:C
            Gene:
            MIR3169 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.002632/324 (ALFA)
            A=0.00088/1 (Daghestan)
            A=0.001002/1 (GoNL)
            A=0.001597/1 (Chileans)
            A=0.013889/3 (Qatari)
            A=0.020628/5460 (TOPMED)
            A=0.026702/134 (1000Genomes)
            A=0.04068/55 (HapMap)
            G=0.5/13 (SGDP_PRJ)
            HGVS:
            6.

            rs35863984 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->T [Show Flanks]
              Chromosome:
              13:61201437 (GRCh38)
              13:61775572 (GRCh37)
              Canonical SPDI:
              NC_000013.11:61201437:TTT:TTTT
              Gene:
              MIR3169 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              HGVS:
              7.

              rs73550783 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                13:61200079 (GRCh38)
                13:61774213 (GRCh37)
                Canonical SPDI:
                NC_000013.11:61200078:C:G,NC_000013.11:61200078:C:T
                Gene:
                MIR3169 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.00701/208 (ALFA)
                T=0.002004/2 (GoNL)
                T=0.003892/15 (ALSPAC)
                T=0.004854/18 (TWINSUK)
                T=0.007812/35 (Estonian)
                T=0.008333/5 (NorthernSweden)
                T=0.046296/10 (Qatari)
                T=0.064457/17061 (TOPMED)
                T=0.071518/358 (1000Genomes)
                T=0.433333/13 (SGDP_PRJ)
                HGVS:
                8.

                rs74080634 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  13:61200672 (GRCh38)
                  13:61774806 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:61200671:T:C
                  Gene:
                  MIR3169 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.014008/202 (ALFA)
                  C=0.001002/1 (GoNL)
                  C=0.013889/3 (Qatari)
                  C=0.019337/2707 (GnomAD)
                  C=0.020605/5454 (TOPMED)
                  C=0.026702/134 (1000Genomes)
                  T=0.5/13 (SGDP_PRJ)
                  HGVS:
                  9.

                  rs75155103 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C,G [Show Flanks]
                    Chromosome:
                    13:61200864 (GRCh38)
                    13:61774998 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:61200863:T:C,NC_000013.11:61200863:T:G
                    Gene:
                    MIR3169 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000693/10 (ALFA)
                    G=0.000976/136 (GnomAD)
                    G=0.00153/405 (TOPMED)
                    G=0.005465/27 (1000Genomes)
                    G=0.019511/327 (TOMMO)
                    G=0.020876/61 (KOREAN)
                    G=0.060185/13 (Vietnamese)
                    T=0.375/6 (SGDP_PRJ)
                    T=0.5/1 (Siberian)
                    HGVS:
                    10.

                    rs76317440 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C,G [Show Flanks]
                      Chromosome:
                      13:61199611 (GRCh38)
                      13:61773745 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:61199610:T:C,NC_000013.11:61199610:T:G
                      Gene:
                      MIR3169 (Varview)
                      Functional Consequence:
                      500B_downstream_variant,downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.05763/1672 (ALFA)
                      C=0.04167/9 (Qatari)
                      C=0.06451/189 (KOREAN)
                      C=0.06613/66 (GoNL)
                      C=0.07012/260 (TWINSUK)
                      C=0.07032/271 (ALSPAC)
                      C=0.07601/1274 (TOMMO)
                      C=0.07886/395 (1000Genomes)
                      C=0.07944/17 (Vietnamese)
                      C=0.09/54 (NorthernSweden)
                      C=0.1/4 (GENOME_DK)
                      C=0.12634/566 (Estonian)
                      T=0.47778/43 (SGDP_PRJ)
                      T=0.5/5 (Siberian)
                      HGVS:
                      11.

                      rs77802447 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        13:61199969 (GRCh38)
                        13:61774103 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:61199968:A:G
                        Gene:
                        MIR3169 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.002705/39 (ALFA)
                        G=0.002004/2 (GoNL)
                        G=0.004413/1168 (TOPMED)
                        G=0.00443/620 (GnomAD)
                        G=0.004841/24 (1000Genomes)
                        A=0.5/2 (SGDP_PRJ)
                        HGVS:
                        12.

                        rs78515516 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          13:61200939 (GRCh38)
                          13:61775073 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:61200938:A:G
                          Gene:
                          MIR3169 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.00641/123 (ALFA)
                          G=0.002004/2 (GoNL)
                          G=0.003892/15 (ALSPAC)
                          G=0.004315/16 (TWINSUK)
                          G=0.00463/1 (Qatari)
                          G=0.004957/694 (GnomAD)
                          G=0.005565/1473 (TOPMED)
                          G=0.007812/35 (Estonian)
                          G=0.008333/5 (NorthernSweden)
                          G=0.012024/60 (1000Genomes)
                          G=0.013801/231 (TOMMO)
                          G=0.019165/56 (KOREAN)
                          G=0.020742/38 (Korea1K)
                          A=0.5/1 (Siberian)
                          A=0.5/5 (SGDP_PRJ)
                          HGVS:
                          13.

                          rs78660016 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            13:61199533 (GRCh38)
                            13:61773667 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:61199532:T:C
                            Gene:
                            MIR3169 (Varview)
                            Functional Consequence:
                            500B_downstream_variant,downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.001165/22 (ALFA)
                            C=0.000212/4 (TOMMO)
                            C=0.000249/66 (TOPMED)
                            C=0.0004/56 (GnomAD)
                            C=0.000781/4 (1000Genomes)
                            C=0.001638/3 (Korea1K)
                            C=0.002053/6 (KOREAN)
                            C=0.004911/22 (Estonian)
                            HGVS:
                            14.

                            rs111994251 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              13:61199942 (GRCh38)
                              13:61774076 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:61199941:T:C
                              Gene:
                              MIR3169 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.002965/56 (ALFA)
                              C=0.000625/3 (1000Genomes)
                              C=0.001002/1 (GoNL)
                              C=0.001541/408 (TOPMED)
                              C=0.001743/244 (GnomAD)
                              C=0.002157/8 (TWINSUK)
                              C=0.002335/9 (ALSPAC)
                              C=0.003125/14 (Estonian)
                              C=0.025/1 (GENOME_DK)
                              HGVS:
                              15.

                              rs139497366 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                13:61201602 (GRCh38)
                                13:61775736 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:61201601:A:T
                                Gene:
                                MIR3169 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                T=0.0002/1 (1000Genomes)
                                HGVS:
                                16.

                                rs141722676 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  13:61200836 (GRCh38)
                                  13:61774970 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:61200835:G:A
                                  Gene:
                                  MIR3169 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.005062/73 (ALFA)
                                  A=0.008012/1116 (GnomAD)
                                  A=0.008236/2180 (TOPMED)
                                  A=0.009838/49 (1000Genomes)
                                  G=0.5/1 (SGDP_PRJ)
                                  HGVS:
                                  17.

                                  rs150541681 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ATT>-,ATTATT [Show Flanks]
                                    Chromosome:
                                    13:61199337 (GRCh38)
                                    13:61773471 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:61199329:TATTATTATT:TATTATT,NC_000013.11:61199329:TATTATTATT:TATTATTATTATT
                                    Gene:
                                    MIR3169 (Varview)
                                    Functional Consequence:
                                    500B_downstream_variant,downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TATTATT=0.004484/63 (ALFA)
                                    -=0.000035/1 (TOMMO)
                                    -=0.005627/786 (GnomAD)
                                    -=0.005973/1581 (TOPMED)
                                    -=0.006871/34 (1000Genomes)
                                    HGVS:
                                    18.

                                    rs181016147 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      13:61200150 (GRCh38)
                                      13:61774284 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:61200149:A:G
                                      Gene:
                                      MIR3169 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000029/4 (GnomAD)
                                      G=0.000156/1 (1000Genomes)
                                      HGVS:
                                      19.

                                      rs182157183 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G,T [Show Flanks]
                                        Chromosome:
                                        13:61199476 (GRCh38)
                                        13:61773610 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:61199475:A:G,NC_000013.11:61199475:A:T
                                        Gene:
                                        MIR3169 (Varview)
                                        Functional Consequence:
                                        500B_downstream_variant,downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        G=0.000014/2 (GnomAD)
                                        G=0.000049/13 (TOPMED)
                                        G=0.000312/2 (1000Genomes)
                                        HGVS:
                                        20.

                                        rs182878430 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A,C [Show Flanks]
                                          Chromosome:
                                          13:61201526 (GRCh38)
                                          13:61775660 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:61201525:T:A,NC_000013.11:61201525:T:C
                                          Gene:
                                          MIR3169 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.00565/106 (ALFA)
                                          A=0.00055/1 (Korea1K)
                                          C=0.00265/13 (1000Genomes)
                                          C=0.00882/34 (ALSPAC)
                                          C=0.00971/36 (TWINSUK)
                                          C=0.01167/7 (NorthernSweden)
                                          C=0.01202/12 (GoNL)
                                          C=0.01763/79 (Estonian)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Find related data

                                          Search details

                                          See more...

                                          Recent activity

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...