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Links from Nucleotide

Items: 1 to 20 of 1000

1.

rs1490834316 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    4:118633573 (GRCh38)
    4:119554728 (GRCh37)
    Canonical SPDI:
    NC_000004.12:118633572:G:A
    Gene:
    LOC729218 (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000021/3 (GnomAD)
    A=0.000023/6 (TOPMED)
    HGVS:
    2.

    rs1490628847 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      4:118630934 (GRCh38)
      4:119552089 (GRCh37)
      Canonical SPDI:
      NC_000004.12:118630933:G:A
      Gene:
      LOC729218 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      HGVS:
      3.

      rs1490541387 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C,T [Show Flanks]
        Chromosome:
        4:118630448 (GRCh38)
        4:119551603 (GRCh37)
        Canonical SPDI:
        NC_000004.12:118630447:A:C,NC_000004.12:118630447:A:T
        Gene:
        LOC729218 (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.006858/112 (ALFA)
        C=0.004367/8 (Korea1K)
        T=0.007688/1070 (GnomAD)
        T=0.011243/72 (1000Genomes)
        A=0.5/1 (SGDP_PRJ)
        HGVS:
        4.

        rs1489854664 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          4:118631079 (GRCh38)
          4:119552234 (GRCh37)
          Canonical SPDI:
          NC_000004.12:118631078:A:C
          Gene:
          LOC729218 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.06203/1013 (ALFA)
          C=0.00984/165 (TOMMO)
          C=0.01965/36 (Korea1K)
          C=0.03767/110 (KOREAN)
          A=0.5/8 (SGDP_PRJ)
          HGVS:
          5.

          rs1489319545 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            4:118634445 (GRCh38)
            4:119555600 (GRCh37)
            Canonical SPDI:
            NC_000004.12:118634444:T:C
            Gene:
            LOC729218 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000015/4 (TOPMED)
            HGVS:
            6.

            rs1489312975 [Homo sapiens]
              Variant type:
              SNV:
              Alleles:
              G>A
              Chromosome:
              no mapping
              Canonical SPDI:
              7.

              rs1489083194 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                4:118631332 (GRCh38)
                4:119552487 (GRCh37)
                Canonical SPDI:
                NC_000004.12:118631331:C:T
                Gene:
                LOC729218 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000214/3 (ALFA)
                T=0.000011/3 (TOPMED)
                T=0.000029/4 (GnomAD)
                HGVS:
                8.

                rs1488434882 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  4:118632668 (GRCh38)
                  4:119553823 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:118632667:C:T
                  Gene:
                  LOC729218 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0.0009/4 (ALFA)
                  HGVS:
                  9.

                  rs1488281213 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    4:118631741 (GRCh38)
                    4:119552896 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:118631740:G:T
                    Gene:
                    LOC729218 (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=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1487584771 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      4:118633715 (GRCh38)
                      4:119554870 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:118633714:G:A
                      Gene:
                      LOC729218 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000021/3 (GnomAD)
                      A=0.000035/1 (TOMMO)
                      HGVS:
                      11.

                      rs1487213610 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAC>- [Show Flanks]
                        Chromosome:
                        4:118631239 (GRCh38)
                        4:119552394 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:118631237:CAAC:C
                        Gene:
                        LOC729218 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1486710531 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          4:118633959 (GRCh38)
                          4:119555114 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:118633958:C:T
                          Gene:
                          LOC729218 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          HGVS:
                          13.

                          rs1486529960 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            CTTT>- [Show Flanks]
                            Chromosome:
                            4:118630907 (GRCh38)
                            4:119552062 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:118630905:TCTTT:T
                            Gene:
                            LOC729218 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            -=0.000029/4 (GnomAD)
                            HGVS:
                            14.

                            rs1486250513 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              4:118632406 (GRCh38)
                              4:119553561 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:118632405:C:T
                              Gene:
                              LOC729218 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1485622123 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                4:118634234 (GRCh38)
                                4:119555389 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:118634233:G:A,NC_000004.12:118634233:G:T
                                Gene:
                                LOC729218 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1485596097 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  4:118633678 (GRCh38)
                                  4:119554833 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:118633677:C:G,NC_000004.12:118633677:C:T
                                  Gene:
                                  LOC729218 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000342/1 (KOREAN)
                                  HGVS:
                                  17.

                                  rs1485330436 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    C>- [Show Flanks]
                                    Chromosome:
                                    4:118630817 (GRCh38)
                                    4:119551972 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:118630816:CCC:CC
                                    Gene:
                                    LOC729218 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    CC=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1485192205 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      4:118633359 (GRCh38)
                                      4:119554514 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:118633358:T:G
                                      Gene:
                                      LOC729218 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000057/8 (GnomAD)
                                      G=0.000156/1 (1000Genomes)
                                      G=0.000283/5 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1484741653 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->T [Show Flanks]
                                        Chromosome:
                                        4:118634888 (GRCh38)
                                        4:119556044 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:118634888:TTTTT:TTTTTT
                                        Gene:
                                        LOC729218 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TTTTTT=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000015/4 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1484494265 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          4:118634805 (GRCh38)
                                          4:119555960 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:118634804:G:A
                                          Gene:
                                          LOC729218 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000019/5 (TOPMED)
                                          A=0.000036/5 (GnomAD)
                                          HGVS:

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