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Links from Nucleotide

Items: 1 to 20 of 9457

1.

rs1491437120 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->G [Show Flanks]
    Chromosome:
    2:65025509 (GRCh38)
    2:65252644 (GRCh37)
    Canonical SPDI:
    NC_000002.12:65025509::G
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1491363612 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TA>- [Show Flanks]
      Chromosome:
      2:65017347 (GRCh38)
      2:65244481 (GRCh37)
      Canonical SPDI:
      NC_000002.12:65017346:TA:
      Gene:
      SLC1A4 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.000084/1 (ALFA)
      -=0.000115/12 (GnomAD)
      HGVS:
      3.

      rs1491299260 has merged into rs70943613 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAAAAAA>-,A,AA,AAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        2:65025519 (GRCh38)
        2:65252653 (GRCh37)
        Canonical SPDI:
        NC_000002.12:65025508:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:65025508:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:65025508:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:65025508:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:65025508:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:65025508:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:65025508:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:65025508:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:65025508:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:65025508:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:65025508:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:65025508:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:65025508:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:65025508:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:65025508:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:65025508:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAA=0./0 (ALFA)
        HGVS:
        NC_000002.12:g.65025519_65025530del, NC_000002.12:g.65025520_65025530del, NC_000002.12:g.65025521_65025530del, NC_000002.12:g.65025522_65025530del, NC_000002.12:g.65025525_65025530del, NC_000002.12:g.65025527_65025530del, NC_000002.12:g.65025528_65025530del, NC_000002.12:g.65025529_65025530del, NC_000002.12:g.65025530del, NC_000002.12:g.65025530dup, NC_000002.12:g.65025529_65025530dup, NC_000002.12:g.65025528_65025530dup, NC_000002.12:g.65025527_65025530dup, NC_000002.12:g.65025526_65025530dup, NC_000002.12:g.65025523_65025530dup, NC_000002.12:g.65025513_65025530dup, NC_000002.11:g.65252653_65252664del, NC_000002.11:g.65252654_65252664del, NC_000002.11:g.65252655_65252664del, NC_000002.11:g.65252656_65252664del, NC_000002.11:g.65252659_65252664del, NC_000002.11:g.65252661_65252664del, NC_000002.11:g.65252662_65252664del, NC_000002.11:g.65252663_65252664del, NC_000002.11:g.65252664del, NC_000002.11:g.65252664dup, NC_000002.11:g.65252663_65252664dup, NC_000002.11:g.65252662_65252664dup, NC_000002.11:g.65252661_65252664dup, NC_000002.11:g.65252660_65252664dup, NC_000002.11:g.65252657_65252664dup, NC_000002.11:g.65252647_65252664dup, NG_053002.1:g.42075_42086del, NG_053002.1:g.42076_42086del, NG_053002.1:g.42077_42086del, NG_053002.1:g.42078_42086del, NG_053002.1:g.42081_42086del, NG_053002.1:g.42083_42086del, NG_053002.1:g.42084_42086del, NG_053002.1:g.42085_42086del, NG_053002.1:g.42086del, NG_053002.1:g.42086dup, NG_053002.1:g.42085_42086dup, NG_053002.1:g.42084_42086dup, NG_053002.1:g.42083_42086dup, NG_053002.1:g.42082_42086dup, NG_053002.1:g.42079_42086dup, NG_053002.1:g.42069_42086dup
        4.

        rs1491283321 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          AT>- [Show Flanks]
          Chromosome:
          2:65023319 (GRCh38)
          2:65250453 (GRCh37)
          Canonical SPDI:
          NC_000002.12:65023318:AT:
          Gene:
          SLC1A4 (Varview)
          Functional Consequence:
          3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0.001642/26 (ALFA)
          -=0.000248/4 (TOMMO)
          -=0.002253/227 (GnomAD)
          HGVS:
          5.

          rs1491266817 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            TA>- [Show Flanks]
            Chromosome:
            2:64991444 (GRCh38)
            2:65218578 (GRCh37)
            Canonical SPDI:
            NC_000002.12:64991443:TA:
            Gene:
            SLC1A4 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0.00008/1 (ALFA)
            HGVS:
            6.

            rs1491227459 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AA>-,A,AAA [Show Flanks]
              Chromosome:
              2:64991446 (GRCh38)
              2:65218580 (GRCh37)
              Canonical SPDI:
              NC_000002.12:64991444:AAA:A,NC_000002.12:64991444:AAA:AA,NC_000002.12:64991444:AAA:AAAA
              Gene:
              SLC1A4 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.00001/1 (GnomAD)
              HGVS:
              7.
              8.

              rs1491020854 has merged into rs57019332 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT [Show Flanks]
                Chromosome:
                2:65007280 (GRCh38)
                2:65234414 (GRCh37)
                Canonical SPDI:
                NC_000002.12:65007270:TGTGTGTGTGTGTGTGTGT:TGTGTGTGT,NC_000002.12:65007270:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000002.12:65007270:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000002.12:65007270:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000002.12:65007270:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000002.12:65007270:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000002.12:65007270:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:65007270:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT
                Gene:
                SLC1A4 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TGTGTGTGTGT=0./0 (ALFA)
                HGVS:
                9.

                rs1490895476 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  2:65003432 (GRCh38)
                  2:65230566 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:65003431:C:G
                  Gene:
                  SLC1A4 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000142/2 (ALFA)
                  G=0.000011/3 (TOPMED)
                  G=0.000029/4 (GnomAD)
                  HGVS:
                  10.

                  rs1490829816 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    2:65004127 (GRCh38)
                    2:65231261 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:65004126:T:C
                    Gene:
                    SLC1A4 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    11.

                    rs1490617485 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      2:65016258 (GRCh38)
                      2:65243392 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:65016257:C:T
                      Gene:
                      SLC1A4 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      12.

                      rs1490609399 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        ATCAC>- [Show Flanks]
                        Chromosome:
                        2:64985036 (GRCh38)
                        2:65212170 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:64985035:ATCAC:
                        Validated:
                        by frequency,by alfa
                        MAF:
                        -=0./0 (ALFA)
                        -=0.000007/1 (GnomAD)
                        HGVS:
                        13.

                        rs1490598818 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          2:65002636 (GRCh38)
                          2:65229770 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:65002635:G:A
                          Gene:
                          SLC1A4 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000008/1 (GnomAD)
                          HGVS:
                          14.

                          rs1490580933 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            2:64987140 (GRCh38)
                            2:65214274 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:64987139:A:C
                            Gene:
                            SLC1A4 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000014/2 (GnomAD)
                            C=0.000023/6 (TOPMED)
                            HGVS:
                            15.

                            rs1490386148 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->T [Show Flanks]
                              Chromosome:
                              2:65018445 (GRCh38)
                              2:65245580 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:65018445:TTTTT:TTTTTT
                              Gene:
                              SLC1A4 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TTTTTT=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000011/3 (TOPMED)
                              HGVS:
                              16.

                              rs1490361556 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                2:65019499 (GRCh38)
                                2:65246633 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:65019498:G:A
                                Gene:
                                SLC1A4 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                17.

                                rs1490281988 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  2:64987097 (GRCh38)
                                  2:65214231 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:64987096:A:G
                                  Gene:
                                  SLC1A4 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000014/2 (GnomAD)
                                  HGVS:
                                  18.

                                  rs1490202669 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    2:65018237 (GRCh38)
                                    2:65245371 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:65018236:C:T
                                    Gene:
                                    SLC1A4 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    19.

                                    rs1490134748 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      2:65010702 (GRCh38)
                                      2:65237836 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:65010701:C:T
                                      Gene:
                                      SLC1A4 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      20.

                                      rs1490071054 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        2:65004448 (GRCh38)
                                        2:65231582 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:65004447:T:C
                                        Gene:
                                        SLC1A4 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0.000084/1 (ALFA)
                                        C=0.000036/5 (GnomAD)
                                        HGVS:

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