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Links from Gene

Items: 1 to 20 of 1051

1.

rs1490601774 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    16:60360314 (GRCh38)
    16:60394218 (GRCh37)
    Canonical SPDI:
    NC_000016.10:60360313:A:T
    Gene:
    LOC101927605 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000021/3 (GnomAD)
    T=0.000026/7 (TOPMED)
    HGVS:
    2.

    rs1489499156 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      16:60358667 (GRCh38)
      16:60392571 (GRCh37)
      Canonical SPDI:
      NC_000016.10:60358666:C:T
      Gene:
      LOC101927605 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1489447547 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        16:60359584 (GRCh38)
        16:60393488 (GRCh37)
        Canonical SPDI:
        NC_000016.10:60359583:G:A
        Gene:
        LOC101927605 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000011/3 (TOPMED)
        A=0.000021/3 (GnomAD)
        HGVS:
        4.

        rs1489084891 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          16:60358581 (GRCh38)
          16:60392485 (GRCh37)
          Canonical SPDI:
          NC_000016.10:60358580:G:A
          Gene:
          LOC101927605 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1489035600 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            16:60359488 (GRCh38)
            16:60393392 (GRCh37)
            Canonical SPDI:
            NC_000016.10:60359487:C:A
            Gene:
            LOC101927605 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0.000071/1 (ALFA)
            A=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1488657661 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              16:60359452 (GRCh38)
              16:60393356 (GRCh37)
              Canonical SPDI:
              NC_000016.10:60359451:G:A
              Gene:
              LOC101927605 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000142/2 (ALFA)
              A=0.000007/1 (GnomAD)
              A=0.00003/8 (TOPMED)
              A=0.000342/1 (KOREAN)
              HGVS:
              7.

              rs1488520553 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                16:60358323 (GRCh38)
                16:60392227 (GRCh37)
                Canonical SPDI:
                NC_000016.10:60358322:C:A
                Gene:
                LOC101927605 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_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:
                8.

                rs1488395740 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  16:60360223 (GRCh38)
                  16:60394127 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:60360222:G:C
                  Gene:
                  LOC101927605 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  C=0.000011/3 (TOPMED)
                  HGVS:
                  9.

                  rs1487865165 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    16:60359064 (GRCh38)
                    16:60392968 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:60359063:C:A
                    Gene:
                    LOC101927605 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_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:
                    10.

                    rs1486929373 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      16:60360324 (GRCh38)
                      16:60394228 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:60360323:C:G,NC_000016.10:60360323:C:T
                      Gene:
                      LOC101927605 (Varview)
                      Functional Consequence:
                      intron_variant,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)
                      T=0.000035/1 (TOMMO)
                      HGVS:
                      11.

                      rs1486878321 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        16:60361439 (GRCh38)
                        16:60395343 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:60361438:A:G
                        Gene:
                        LOC101927605 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1486339846 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          16:60360043 (GRCh38)
                          16:60393947 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:60360042:G:A
                          Gene:
                          LOC101927605 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000029/4 (GnomAD)
                          A=0.000038/10 (TOPMED)
                          A=0.000071/1 (TOMMO)
                          A=0.000342/1 (KOREAN)
                          A=0.000468/3 (1000Genomes)
                          HGVS:
                          13.

                          rs1485357720 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            16:60360946 (GRCh38)
                            16:60394850 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:60360945:T:A
                            Gene:
                            LOC101927605 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1484038076 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              16:60357916 (GRCh38)
                              16:60391820 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:60357915:T:C
                              Gene:
                              LOC101927605 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.00007/9 (GnomAD)
                              C=0.000156/1 (1000Genomes)
                              HGVS:
                              15.

                              rs1483197206 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                16:60357543 (GRCh38)
                                16:60391447 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:60357542:C:G
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000019/5 (TOPMED)
                                G=0.000177/3 (TOMMO)
                                HGVS:
                                16.

                                rs1483185373 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  16:60360237 (GRCh38)
                                  16:60394141 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:60360236:T:G
                                  Gene:
                                  LOC101927605 (Varview)
                                  Functional Consequence:
                                  intron_variant,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:
                                  17.

                                  rs1482988789 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    16:60358991 (GRCh38)
                                    16:60392895 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:60358990:C:T
                                    Gene:
                                    LOC101927605 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000015/4 (TOPMED)
                                    T=0.000036/5 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1482304195 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      16:60360477 (GRCh38)
                                      16:60394381 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:60360476:T:C
                                      Gene:
                                      LOC101927605 (Varview)
                                      Functional Consequence:
                                      intron_variant,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:
                                      19.

                                      rs1481986718 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        16:60360980 (GRCh38)
                                        16:60394884 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:60360979:A:G
                                        Gene:
                                        LOC101927605 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000071/1 (ALFA)
                                        G=0.000021/3 (GnomAD)
                                        G=0.000023/6 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1481482098 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          16:60361284 (GRCh38)
                                          16:60395188 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:60361283:T:A
                                          Gene:
                                          LOC101927605 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000008/2 (TOPMED)
                                          HGVS:

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