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Links from Gene

Items: 1 to 20 of 2028

1.

rs1491394923 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->TA,TTTTTTTTTTA [Show Flanks]
    Chromosome:
    9:97129748 (GRCh38)
    9:99892031 (GRCh37)
    Canonical SPDI:
    NC_000009.12:97129748::TA,NC_000009.12:97129748::TTTTTTTTTTA
    Gene:
    LOC105376166 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    TTTTTTTTTTA=0./0 (ALFA)
    TA=0.0001/5 (GnomAD)
    HGVS:
    2.

    rs1491338267 has merged into rs766630518 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TA>- [Show Flanks]
      Chromosome:
      9:97129750 (GRCh38)
      9:99892032 (GRCh37)
      Canonical SPDI:
      NC_000009.12:97129747:TATA:TA
      Gene:
      LOC105376166 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TATA=0./0 (ALFA)
      -=0.00121/17 (TOMMO)
      -=0.00137/66 (GnomAD)
      -=0.49611/1912 (ALSPAC)
      HGVS:
      3.

      rs1491104754 has merged into rs138767875 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        CACACACA>-,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA [Show Flanks]
        Chromosome:
        9:97128998 (GRCh38)
        9:99891280 (GRCh37)
        Canonical SPDI:
        NC_000009.12:97128986:ACACACACACACACACACA:ACACACACACA,NC_000009.12:97128986:ACACACACACACACACACA:ACACACACACACACA,NC_000009.12:97128986:ACACACACACACACACACA:ACACACACACACACACA,NC_000009.12:97128986:ACACACACACACACACACA:ACACACACACACACACACACA,NC_000009.12:97128986:ACACACACACACACACACA:ACACACACACACACACACACACA,NC_000009.12:97128986:ACACACACACACACACACA:ACACACACACACACACACACACACA
        Gene:
        LOC105376166 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        ACACACACACACACACA=0./0 (ALFA)
        -=0.000042/11 (TOPMED)
        AC=0.125/5 (GENOME_DK)
        AC=0.193333/116 (NorthernSweden)
        AC=0.287141/1438 (1000Genomes)
        HGVS:
        4.

        rs1490660501 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          9:97126601 (GRCh38)
          9:99888883 (GRCh37)
          Canonical SPDI:
          NC_000009.12:97126600:A:T
          Gene:
          LOC105376166 (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:
          5.

          rs1490168792 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            9:97127254 (GRCh38)
            9:99889536 (GRCh37)
            Canonical SPDI:
            NC_000009.12:97127253:A:G
            Gene:
            LOC105376166 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000071/1 (ALFA)
            G=0.000036/5 (GnomAD)
            G=0.000076/20 (TOPMED)
            G=0.000342/1 (KOREAN)
            G=0.000425/7 (TOMMO)
            G=0.00463/1 (Vietnamese)
            HGVS:
            6.

            rs1489349357 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              9:97126477 (GRCh38)
              9:99888759 (GRCh37)
              Canonical SPDI:
              NC_000009.12:97126476:C:G,NC_000009.12:97126476:C:T
              Gene:
              LOC105376166 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1489249965 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                9:97127831 (GRCh38)
                9:99890113 (GRCh37)
                Canonical SPDI:
                NC_000009.12:97127830:C:T
                Gene:
                LOC105376166 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000054/1 (ALFA)
                T=0.000019/5 (TOPMED)
                T=0.000036/5 (GnomAD)
                HGVS:
                8.

                rs1489004890 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  9:97128982 (GRCh38)
                  9:99891264 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:97128981:C:T
                  Gene:
                  LOC105376166 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000038/10 (TOPMED)
                  T=0.000071/9 (GnomAD)
                  HGVS:
                  9.

                  rs1488701104 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    9:97131881 (GRCh38)
                    9:99894163 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:97131880:G:T
                    Gene:
                    LOC105376166 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_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.

                    rs1487788666 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      9:97131596 (GRCh38)
                      9:99893878 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:97131595:G:A
                      Gene:
                      LOC105376166 (Varview)
                      Functional Consequence:
                      upstream_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:
                      11.

                      rs1487388894 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        9:97124337 (GRCh38)
                        9:99886619 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:97124336:A:G
                        Gene:
                        LOC105376166 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1487085033 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          9:97128852 (GRCh38)
                          9:99891134 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:97128851:G:A
                          Gene:
                          LOC105376166 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000093/13 (GnomAD)
                          A=0.000193/51 (TOPMED)
                          HGVS:
                          13.

                          rs1486959024 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            9:97125122 (GRCh38)
                            9:99887404 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:97125121:C:G
                            Gene:
                            LOC105376166 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1486791698 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              9:97123921 (GRCh38)
                              9:99886203 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:97123920:G:A
                              Gene:
                              LOC105376166 (Varview)
                              Functional Consequence:
                              500B_downstream_variant,downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000021/3 (GnomAD)
                              HGVS:
                              15.

                              rs1486717929 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                9:97127184 (GRCh38)
                                9:99889466 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:97127183:A:G
                                Gene:
                                LOC105376166 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1485565279 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  9:97130280 (GRCh38)
                                  9:99892562 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:97130279:T:C
                                  Gene:
                                  LOC105376166 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000014/2 (GnomAD)
                                  C=0.000239/4 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1485220081 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    9:97129665 (GRCh38)
                                    9:99891947 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:97129664:T:A
                                    Gene:
                                    LOC105376166 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    A=0.0005/1 (Korea1K)
                                    HGVS:
                                    18.

                                    rs1485084873 [Homo sapiens]
                                      Variant type:
                                      SNV:
                                      Alleles:
                                      CTCT>-
                                      Chromosome:
                                      no mapping
                                      Canonical SPDI:
                                      19.

                                      rs1484718071 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        9:97130907 (GRCh38)
                                        9:99893189 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:97130906:A:G
                                        Gene:
                                        LOC105376166 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1484585461 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,T [Show Flanks]
                                          Chromosome:
                                          9:97130510 (GRCh38)
                                          9:99892792 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:97130509:C:A,NC_000009.12:97130509:C:T
                                          Gene:
                                          LOC105376166 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          A=0.000008/2 (TOPMED)
                                          T=0.000047/6 (GnomAD)
                                          HGVS:

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