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Items: 1 to 20 of 1120

1.

rs1491064199 has merged into rs60669434 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    10:49300471 (GRCh38)
    10:50508516 (GRCh37)
    Canonical SPDI:
    NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    C10orf71 (Varview), C10orf71-AS1 (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAA=0./0 (ALFA)
    -=0.2496/1250 (1000Genomes)
    HGVS:
    NC_000010.11:g.49300471_49300480del, NC_000010.11:g.49300472_49300480del, NC_000010.11:g.49300473_49300480del, NC_000010.11:g.49300474_49300480del, NC_000010.11:g.49300475_49300480del, NC_000010.11:g.49300476_49300480del, NC_000010.11:g.49300477_49300480del, NC_000010.11:g.49300478_49300480del, NC_000010.11:g.49300479_49300480del, NC_000010.11:g.49300480del, NC_000010.11:g.49300480dup, NC_000010.11:g.49300479_49300480dup, NC_000010.11:g.49300478_49300480dup, NC_000010.11:g.49300477_49300480dup, NC_000010.11:g.49300476_49300480dup, NC_000010.11:g.49300475_49300480dup, NC_000010.11:g.49300474_49300480dup, NC_000010.10:g.50508516_50508525del, NC_000010.10:g.50508517_50508525del, NC_000010.10:g.50508518_50508525del, NC_000010.10:g.50508519_50508525del, NC_000010.10:g.50508520_50508525del, NC_000010.10:g.50508521_50508525del, NC_000010.10:g.50508522_50508525del, NC_000010.10:g.50508523_50508525del, NC_000010.10:g.50508524_50508525del, NC_000010.10:g.50508525del, NC_000010.10:g.50508525dup, NC_000010.10:g.50508524_50508525dup, NC_000010.10:g.50508523_50508525dup, NC_000010.10:g.50508522_50508525dup, NC_000010.10:g.50508521_50508525dup, NC_000010.10:g.50508520_50508525dup, NC_000010.10:g.50508519_50508525dup
    2.

    rs1490642510 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      10:49299495 (GRCh38)
      10:50507540 (GRCh37)
      Canonical SPDI:
      NC_000010.11:49299494:G:A
      Gene:
      C10orf71 (Varview), C10orf71-AS1 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000094/1 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1490320085 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GAA>- [Show Flanks]
        Chromosome:
        10:49296089 (GRCh38)
        10:50504134 (GRCh37)
        Canonical SPDI:
        NC_000010.11:49296085:GAAGAA:GAA
        Gene:
        C10orf71 (Varview), C10orf71-AS1 (Varview)
        Functional Consequence:
        2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        GAAGAA=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1489857642 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          10:49295857 (GRCh38)
          10:50503902 (GRCh37)
          Canonical SPDI:
          NC_000010.11:49295856:T:G
          Gene:
          C10orf71 (Varview), C10orf71-AS1 (Varview)
          Functional Consequence:
          2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1489489677 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            10:49300628 (GRCh38)
            10:50508673 (GRCh37)
            Canonical SPDI:
            NC_000010.11:49300627:T:C
            Gene:
            C10orf71 (Varview), C10orf71-AS1 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            HGVS:
            6.

            rs1489386500 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              10:49300222 (GRCh38)
              10:50508267 (GRCh37)
              Canonical SPDI:
              NC_000010.11:49300221:T:A
              Gene:
              C10orf71 (Varview), C10orf71-AS1 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1488318081 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                10:49298193 (GRCh38)
                10:50506238 (GRCh37)
                Canonical SPDI:
                NC_000010.11:49298192:A:G
                Gene:
                C10orf71 (Varview), C10orf71-AS1 (Varview)
                Functional Consequence:
                upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1487922598 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  10:49298148 (GRCh38)
                  10:50506193 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:49298147:G:A
                  Gene:
                  C10orf71 (Varview), C10orf71-AS1 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0.000071/1 (ALFA)
                  A=0.000011/3 (TOPMED)
                  HGVS:
                  9.

                  rs1487438969 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A,C [Show Flanks]
                    Chromosome:
                    10:49298438 (GRCh38)
                    10:50506483 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:49298437:T:A,NC_000010.11:49298437:T:C
                    Gene:
                    C10orf71 (Varview), C10orf71-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1486911644 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      10:49297987 (GRCh38)
                      10:50506032 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:49297986:T:C
                      Gene:
                      C10orf71 (Varview), C10orf71-AS1 (Varview)
                      Functional Consequence:
                      intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000011/3 (TOPMED)
                      C=0.000029/4 (GnomAD)
                      HGVS:
                      11.

                      rs1485442244 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        10:49295828 (GRCh38)
                        10:50503873 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:49295827:A:G
                        Gene:
                        C10orf71 (Varview), C10orf71-AS1 (Varview)
                        Functional Consequence:
                        downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1485101389 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          10:49300341 (GRCh38)
                          10:50508386 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:49300340:T:C
                          Gene:
                          C10orf71 (Varview), C10orf71-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000015/4 (TOPMED)
                          C=0.000342/1 (KOREAN)
                          HGVS:
                          13.

                          rs1483977034 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            10:49296523 (GRCh38)
                            10:50504568 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:49296522:G:A
                            Gene:
                            C10orf71 (Varview), C10orf71-AS1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000015/4 (TOPMED)
                            HGVS:
                            14.

                            rs1483966004 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              10:49295904 (GRCh38)
                              10:50503949 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:49295903:G:A
                              Gene:
                              C10orf71 (Varview), C10orf71-AS1 (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1482886567 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                10:49297335 (GRCh38)
                                10:50505380 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:49297334:A:G
                                Gene:
                                C10orf71 (Varview), C10orf71-AS1 (Varview)
                                Functional Consequence:
                                intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1482466296 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  10:49298944 (GRCh38)
                                  10:50506989 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:49298943:T:A
                                  Gene:
                                  C10orf71 (Varview), C10orf71-AS1 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0./0 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1481934442 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    10:49298509 (GRCh38)
                                    10:50506554 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:49298508:C:A
                                    Gene:
                                    C10orf71 (Varview), C10orf71-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1480428347 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      10:49296154 (GRCh38)
                                      10:50504199 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:49296153:C:T
                                      Gene:
                                      C10orf71 (Varview), C10orf71-AS1 (Varview)
                                      Functional Consequence:
                                      downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1479384801 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        10:49300446 (GRCh38)
                                        10:50508491 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:49300445:T:A
                                        Gene:
                                        C10orf71 (Varview), C10orf71-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0.000084/1 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1478253650 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          10:49296732 (GRCh38)
                                          10:50504777 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:49296731:G:A,NC_000010.11:49296731:G:C
                                          Gene:
                                          C10orf71 (Varview), C10orf71-AS1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:

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