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Links from Nucleotide

Items: 1 to 20 of 444

1.

rs1490881862 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    4:584470 (GRCh38)
    4:578259 (GRCh37)
    Canonical SPDI:
    NC_000004.12:584469:T:C
    Gene:
    LOC105374338 (Varview)
    Functional Consequence:
    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.

    rs1490662847 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      4:577715 (GRCh38)
      4:571504 (GRCh37)
      Canonical SPDI:
      NC_000004.12:577714:C:T
      Gene:
      LOC105374338 (Varview), TMEM271 (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=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1489532090 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        4:577208 (GRCh38)
        4:570997 (GRCh37)
        Canonical SPDI:
        NC_000004.12:577207:G:A
        Gene:
        LOC105374338 (Varview), TMEM271 (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=0.000004/1 (TOPMED)
        A=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1489186618 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A,C [Show Flanks]
          Chromosome:
          4:577989 (GRCh38)
          4:571778 (GRCh37)
          Canonical SPDI:
          NC_000004.12:577988:T:A,NC_000004.12:577988:T:C
          Gene:
          LOC105374338 (Varview), TMEM271 (Varview)
          Functional Consequence:
          upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          C=0.00004/1 (TOMMO)
          HGVS:
          5.

          rs1488136061 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            4:577702 (GRCh38)
            4:571491 (GRCh37)
            Canonical SPDI:
            NC_000004.12:577701:C:A,NC_000004.12:577701:C:T
            Gene:
            LOC105374338 (Varview), TMEM271 (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)
            A=0.000007/1 (GnomAD)
            T=0.000637/11 (TOMMO)
            HGVS:
            6.

            rs1487893842 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              4:578122 (GRCh38)
              4:571911 (GRCh37)
              Canonical SPDI:
              NC_000004.12:578121:C:T
              Gene:
              LOC105374338 (Varview), TMEM271 (Varview)
              Functional Consequence:
              upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000462/7 (ALFA)
              T=0.000086/12 (GnomAD)
              T=0.001339/6 (Estonian)
              T=0.005/3 (NorthernSweden)
              HGVS:
              7.

              rs1487279095 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                4:578103 (GRCh38)
                4:571892 (GRCh37)
                Canonical SPDI:
                NC_000004.12:578102:G:A
                Gene:
                LOC105374338 (Varview), TMEM271 (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=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1486250339 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  4:584309 (GRCh38)
                  4:578098 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:584308:G:A
                  Gene:
                  LOC105374338 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1481471755 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    T>- [Show Flanks]
                    Chromosome:
                    4:584587 (GRCh38)
                    4:578376 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:584586:TT:T
                    Gene:
                    LOC105374338 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TT=0./0 (ALFA)
                    -=0.000007/1 (GnomAD)
                    -=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1480968040 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      4:577480 (GRCh38)
                      4:571269 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:577479:G:A,NC_000004.12:577479:G:C
                      Gene:
                      LOC105374338 (Varview), TMEM271 (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=0.000007/1 (GnomAD)
                      C=0.000015/4 (TOPMED)
                      A=0.000035/1 (TOMMO)
                      HGVS:
                      11.

                      rs1478654615 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        4:578762 (GRCh38)
                        4:572551 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:578761:A:G
                        Gene:
                        LOC105374338 (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:
                        12.

                        rs1478647430 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          4:578095 (GRCh38)
                          4:571884 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:578094:T:G
                          Gene:
                          LOC105374338 (Varview), TMEM271 (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:
                          13.

                          rs1477458178 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            4:577869 (GRCh38)
                            4:571658 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:577868:G:A,NC_000004.12:577868:G:T
                            Gene:
                            LOC105374338 (Varview), TMEM271 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000066/1 (ALFA)
                            T=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            A=0.000223/1 (Estonian)
                            HGVS:
                            14.

                            rs1477130720 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              4:584735 (GRCh38)
                              4:578524 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:584734:G:A,NC_000004.12:584734:G:T
                              Gene:
                              LOC105374338 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              T=0.000035/1 (TOMMO)
                              HGVS:
                              15.

                              rs1471876492 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                4:577694 (GRCh38)
                                4:571483 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:577693:A:C
                                Gene:
                                LOC105374338 (Varview), TMEM271 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1471620627 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  4:584782 (GRCh38)
                                  4:578571 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:584781:G:A
                                  Gene:
                                  LOC105374338 (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:
                                  17.

                                  rs1471458426 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    4:577877 (GRCh38)
                                    4:571666 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:577876:C:G,NC_000004.12:577876:C:T
                                    Gene:
                                    LOC105374338 (Varview), TMEM271 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1470938735 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      4:584725 (GRCh38)
                                      4:578514 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:584724:A:G
                                      Gene:
                                      LOC105374338 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000011/3 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1470393662 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        4:577173 (GRCh38)
                                        4:570962 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:577172:G:A
                                        Gene:
                                        LOC105374338 (Varview), TMEM271 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1467262047 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          4:578151 (GRCh38)
                                          4:571940 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:578150:G:A,NC_000004.12:578150:G:T
                                          Gene:
                                          LOC105374338 (Varview), TMEM271 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          A=0.000014/2 (GnomAD)
                                          A=0.000019/5 (TOPMED)
                                          T=0.000071/1 (TOMMO)
                                          HGVS:

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