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Items: 1 to 20 of 1257

1.

rs1491011150 has merged into rs3070655 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAA>-,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
    Chromosome:
    1:15658765 (GRCh38)
    1:15985260 (GRCh37)
    Canonical SPDI:
    NC_000001.11:15658754:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:15658754:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:15658754:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:15658754:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:15658754:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:15658754:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
    Gene:
    RSC1A1 (Varview), DDI2 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAA=0./0 (ALFA)
    -=0.3395/1700 (1000Genomes)
    HGVS:
    2.

    rs1490439949 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      1:15658749 (GRCh38)
      1:15985244 (GRCh37)
      Canonical SPDI:
      NC_000001.11:15658748:A:G
      Gene:
      RSC1A1 (Varview), DDI2 (Varview)
      Functional Consequence:
      intron_variant,upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1490242113 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        1:15659799 (GRCh38)
        1:15986294 (GRCh37)
        Canonical SPDI:
        NC_000001.11:15659798:C:G,NC_000001.11:15659798:C:T
        Gene:
        RSC1A1 (Varview), DDI2 (Varview)
        Functional Consequence:
        intron_variant,5_prime_UTR_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1489677572 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          1:15660407 (GRCh38)
          1:15986902 (GRCh37)
          Canonical SPDI:
          NC_000001.11:15660406:A:G
          Gene:
          RSC1A1 (Varview), DDI2 (Varview)
          Functional Consequence:
          3_prime_UTR_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          ...more
          HGVS:
          5.

          rs1488742629 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            1:15658189 (GRCh38)
            1:15984684 (GRCh37)
            Canonical SPDI:
            NC_000001.11:15658188:A:C
            Gene:
            RSC1A1 (Varview), DDI2 (Varview)
            Functional Consequence:
            intron_variant,upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency
            MAF:
            C=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1487416913 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:15662440 (GRCh38)
              1:15988935 (GRCh37)
              Canonical SPDI:
              NC_000001.11:15662439:G:A
              Gene:
              RSC1A1 (Varview), DDI2 (Varview)
              Functional Consequence:
              3_prime_UTR_variant,500B_downstream_variant,downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1487294636 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                1:15659897 (GRCh38)
                1:15986392 (GRCh37)
                Canonical SPDI:
                NC_000001.11:15659896:T:G
                Gene:
                RSC1A1 (Varview), DDI2 (Varview)
                Functional Consequence:
                3_prime_UTR_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.000032/1 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                G=0.000004/1 (TOPMED)
                ...more
                HGVS:
                8.

                rs1487149340 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  1:15661966 (GRCh38)
                  1:15988461 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:15661965:G:T
                  Gene:
                  RSC1A1 (Varview), DDI2 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  ...more
                  HGVS:
                  9.

                  rs1487057774 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    1:15660288 (GRCh38)
                    1:15986783 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:15660287:G:C
                    Gene:
                    RSC1A1 (Varview), DDI2 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1486590914 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      1:15659821 (GRCh38)
                      1:15986316 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:15659820:C:T
                      Gene:
                      RSC1A1 (Varview), DDI2 (Varview)
                      Functional Consequence:
                      intron_variant,5_prime_UTR_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000012/2 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1485749365 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        1:15662304 (GRCh38)
                        1:15988799 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:15662303:G:A
                        Gene:
                        RSC1A1 (Varview), DDI2 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,500B_downstream_variant,downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000011/3 (TOPMED)
                        ...more
                        HGVS:
                        12.

                        rs1485600745 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ACCAGAG>- [Show Flanks]
                          Chromosome:
                          1:15660137 (GRCh38)
                          1:15986632 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:15660134:AGACCAGAG:AG
                          Gene:
                          RSC1A1 (Varview), DDI2 (Varview)
                          Functional Consequence:
                          frameshift_variant,3_prime_UTR_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          -=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1484150061 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            1:15660755 (GRCh38)
                            1:15987250 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:15660754:C:G,NC_000001.11:15660754:C:T
                            Gene:
                            RSC1A1 (Varview), DDI2 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1484026191 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C,T [Show Flanks]
                              Chromosome:
                              1:15659041 (GRCh38)
                              1:15985536 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:15659040:G:C,NC_000001.11:15659040:G:T
                              Gene:
                              RSC1A1 (Varview), DDI2 (Varview)
                              Functional Consequence:
                              intron_variant,2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1483990366 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                1:15661166 (GRCh38)
                                1:15987661 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:15661165:C:T
                                Gene:
                                RSC1A1 (Varview), DDI2 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/2 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1483738640 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  1:15662427 (GRCh38)
                                  1:15988922 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:15662426:G:A
                                  Gene:
                                  RSC1A1 (Varview), DDI2 (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000071/1 (ALFA)
                                  A=0.000021/3 (GnomAD)
                                  A=0.000049/13 (TOPMED)
                                  ...more
                                  HGVS:
                                  17.

                                  rs1483433138 [Homo sapiens]
                                    Variant type:
                                    INS
                                    Alleles:
                                    ->A,AA [Show Flanks]
                                    Chromosome:
                                    1:15658753 (GRCh38)
                                    1:15985249 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:15658753::A,NC_000001.11:15658753::AA
                                    Gene:
                                    RSC1A1 (Varview), DDI2 (Varview)
                                    Functional Consequence:
                                    intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    AA=0./0 (ALFA)
                                    AA=0.00035/17 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1483388951 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      1:15661258 (GRCh38)
                                      1:15987753 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:15661257:A:G
                                      Gene:
                                      RSC1A1 (Varview), DDI2 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1482726203 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        1:15662160 (GRCh38)
                                        1:15988655 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:15662159:G:A
                                        Gene:
                                        RSC1A1 (Varview), DDI2 (Varview)
                                        Functional Consequence:
                                        downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000008/2 (TOPMED)
                                        ...more
                                        HGVS:
                                        20.

                                        rs1482387402 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          1:15661564 (GRCh38)
                                          1:15988059 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:15661563:A:G
                                          Gene:
                                          RSC1A1 (Varview), DDI2 (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0.000111/1 (ALFA)
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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