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Links from Nucleotide

Items: 1 to 20 of 700

1.

rs1490867626 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    16:86555527 (GRCh38)
    16:86589133 (GRCh37)
    Canonical SPDI:
    NC_000016.10:86555526:C:A,NC_000016.10:86555526:C:T
    Gene:
    MTHFSD (Varview), FLJ30679 (Varview)
    Functional Consequence:
    2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
    HGVS:
    2.

    rs1490744199 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      16:86555383 (GRCh38)
      16:86588989 (GRCh37)
      Canonical SPDI:
      NC_000016.10:86555382:A:G
      Gene:
      MTHFSD (Varview), FLJ30679 (Varview)
      Functional Consequence:
      2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.000448/2 (ALFA)
      G=0.000014/2 (GnomAD)
      G=0.00067/3 (Estonian)
      HGVS:
      3.

      rs1488128054 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        16:86556523 (GRCh38)
        16:86590129 (GRCh37)
        Canonical SPDI:
        NC_000016.10:86556522:C:T
        Gene:
        MTHFSD (Varview), FLJ30679 (Varview)
        Functional Consequence:
        2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1486201394 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          16:86555596 (GRCh38)
          16:86589202 (GRCh37)
          Canonical SPDI:
          NC_000016.10:86555595:A:C
          Gene:
          MTHFSD (Varview), FLJ30679 (Varview)
          Functional Consequence:
          upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency
          MAF:
          C=0.000008/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1485980510 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            16:86556364 (GRCh38)
            16:86589970 (GRCh37)
            Canonical SPDI:
            NC_000016.10:86556363:G:A
            Gene:
            MTHFSD (Varview), FLJ30679 (Varview)
            Functional Consequence:
            upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1481875577 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              16:86555829 (GRCh38)
              16:86589435 (GRCh37)
              Canonical SPDI:
              NC_000016.10:86555828:G:C
              Gene:
              MTHFSD (Varview), FLJ30679 (Varview)
              Functional Consequence:
              upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1481614983 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                16:86555749 (GRCh38)
                16:86589355 (GRCh37)
                Canonical SPDI:
                NC_000016.10:86555748:C:T
                Gene:
                MTHFSD (Varview), FLJ30679 (Varview)
                Functional Consequence:
                upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency
                MAF:
                T=0.000008/1 (GnomAD_exomes)
                HGVS:
                8.

                rs1480438892 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C [Show Flanks]
                  Chromosome:
                  16:86555755 (GRCh38)
                  16:86589361 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:86555754:G:A,NC_000016.10:86555754:G:C
                  Gene:
                  MTHFSD (Varview), FLJ30679 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1479604710 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    16:86556458 (GRCh38)
                    16:86590064 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:86556457:A:C
                    Gene:
                    MTHFSD (Varview), FLJ30679 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1475935046 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      16:86555820 (GRCh38)
                      16:86589426 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:86555819:C:G
                      Gene:
                      MTHFSD (Varview), FLJ30679 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1475013677 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        G>- [Show Flanks]
                        Chromosome:
                        16:86556777 (GRCh38)
                        16:86590383 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:86556776:G:
                        Gene:
                        MTHFSD (Varview), FLJ30679 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        -=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1474864207 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          16:86557013 (GRCh38)
                          16:86590619 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:86557012:C:A
                          Gene:
                          MTHFSD (Varview), FLJ30679 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0.000071/1 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1472540381 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            16:86556118 (GRCh38)
                            16:86589724 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:86556117:A:G
                            Gene:
                            MTHFSD (Varview), FLJ30679 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000019/5 (TOPMED)
                            G=0.000071/1 (TOMMO)
                            HGVS:
                            14.

                            rs1471431484 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              16:86556899 (GRCh38)
                              16:86590505 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:86556898:T:C
                              Gene:
                              MTHFSD (Varview), FLJ30679 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1471400524 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,G [Show Flanks]
                                Chromosome:
                                16:86556222 (GRCh38)
                                16:86589828 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:86556221:C:A,NC_000016.10:86556221:C:G
                                Gene:
                                MTHFSD (Varview), FLJ30679 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000011/3 (TOPMED)
                                G=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1470050110 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  16:86555700 (GRCh38)
                                  16:86589306 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:86555699:G:T
                                  Gene:
                                  MTHFSD (Varview), FLJ30679 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000008/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1469831790 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    16:86556601 (GRCh38)
                                    16:86590207 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:86556600:T:G
                                    Gene:
                                    MTHFSD (Varview), FLJ30679 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000008/2 (TOPMED)
                                    G=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1468947021 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      16:86555766 (GRCh38)
                                      16:86589372 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:86555765:C:T
                                      Gene:
                                      MTHFSD (Varview), FLJ30679 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/1 (GnomAD_exomes)
                                      T=0.000008/2 (TOPMED)
                                      T=0.000106/2 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1468879797 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        16:86555889 (GRCh38)
                                        16:86589495 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:86555888:C:T
                                        Gene:
                                        MTHFSD (Varview), FLJ30679 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1467542123 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          16:86556232 (GRCh38)
                                          16:86589838 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:86556231:C:A
                                          Gene:
                                          MTHFSD (Varview), FLJ30679 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000019/5 (TOPMED)
                                          A=0.000035/1 (TOMMO)
                                          HGVS:

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