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Links from Nucleotide

Items: 1 to 20 of 268

1.

rs1489987965 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C [Show Flanks]
    Chromosome:
    2:221732636 (GRCh38)
    2:222597356 (GRCh37)
    Canonical SPDI:
    NC_000002.12:221732635:A:C
    Gene:
    LOC105373899 (Varview)
    Functional Consequence:
    intron_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000015/4 (TOPMED)
    C=0.000029/4 (GnomAD)
    HGVS:
    2.

    rs1485052428 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A,C [Show Flanks]
      Chromosome:
      2:221736816 (GRCh38)
      2:222601536 (GRCh37)
      Canonical SPDI:
      NC_000002.12:221736815:T:A,NC_000002.12:221736815:T:C
      Gene:
      LOC105373899 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1479763538 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        2:221732736 (GRCh38)
        2:222597456 (GRCh37)
        Canonical SPDI:
        NC_000002.12:221732735:C:A
        Gene:
        LOC105373899 (Varview)
        Functional Consequence:
        intron_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        A=0.000011/3 (TOPMED)
        HGVS:
        4.

        rs1474930793 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          2:221736786 (GRCh38)
          2:222601506 (GRCh37)
          Canonical SPDI:
          NC_000002.12:221736785:C:T
          Gene:
          LOC105373899 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000021/3 (GnomAD)
          HGVS:
          5.

          rs1474629784 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            2:221700390 (GRCh38)
            2:222565110 (GRCh37)
            Canonical SPDI:
            NC_000002.12:221700389:C:T
            Gene:
            LOC105373899 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1472062578 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              2:221637541 (GRCh38)
              2:222502261 (GRCh37)
              Canonical SPDI:
              NC_000002.12:221637540:G:A
              Gene:
              LOC105373899 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000011/3 (TOPMED)
              HGVS:
              7.

              rs1470167534 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                2:221700475 (GRCh38)
                2:222565195 (GRCh37)
                Canonical SPDI:
                NC_000002.12:221700474:A:G
                Gene:
                LOC105373899 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000015/4 (TOPMED)
                G=0.000684/2 (KOREAN)
                G=0.000814/14 (TOMMO)
                HGVS:
                8.

                rs1468392822 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  2:221700498 (GRCh38)
                  2:222565218 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:221700497:T:A
                  Gene:
                  LOC105373899 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1466883553 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    2:221683479 (GRCh38)
                    2:222548199 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:221683478:G:A
                    Gene:
                    LOC105373899 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000008/2 (TOPMED)
                    A=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1464078636 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      2:221637554 (GRCh38)
                      2:222502274 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:221637553:T:C
                      Gene:
                      LOC105373899 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1461517581 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        2:221738570 (GRCh38)
                        2:222603290 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:221738569:C:T
                        Gene:
                        LOC105373899 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1457521926 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          2:221683443 (GRCh38)
                          2:222548163 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:221683442:A:G
                          Gene:
                          LOC105373899 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1457454213 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            2:221738596 (GRCh38)
                            2:222603316 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:221738595:A:T
                            Gene:
                            LOC105373899 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1456702013 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              2:221700414 (GRCh38)
                              2:222565134 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:221700413:A:G
                              Gene:
                              LOC105373899 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1455050637 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C,G [Show Flanks]
                                Chromosome:
                                2:221700463 (GRCh38)
                                2:222565183 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:221700462:A:C,NC_000002.12:221700462:A:G
                                Gene:
                                LOC105373899 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1450510258 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  2:221641689 (GRCh38)
                                  2:222506409 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:221641688:A:G
                                  Gene:
                                  LOC105373899 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000042/11 (TOPMED)
                                  G=0.000065/9 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1445818393 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    2:221738538 (GRCh38)
                                    2:222603258 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:221738537:G:A
                                    Gene:
                                    LOC105373899 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000034/9 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1442503644 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      2:221641711 (GRCh38)
                                      2:222506431 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:221641710:T:C
                                      Gene:
                                      LOC105373899 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.00003/4 (GnomAD)
                                      C=0.000034/9 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1440170687 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        2:221683527 (GRCh38)
                                        2:222548247 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:221683526:C:A
                                        Gene:
                                        LOC105373899 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1439370545 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          2:221700096 (GRCh38)
                                          2:222564816 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:221700095:G:C
                                          Gene:
                                          LOC105373899 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000011/3 (TOPMED)
                                          HGVS:

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