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Links from Gene

Items: 1 to 20 of 2087

1.

rs1490888143 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    C>- [Show Flanks]
    Chromosome:
    4:146053595 (GRCh38)
    4:146974747 (GRCh37)
    Canonical SPDI:
    NC_000004.12:146053594:CC:C
    Gene:
    LOC105377468 (Varview)
    Functional Consequence:
    intron_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    CC=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490690418 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      4:146057160 (GRCh38)
      4:146978312 (GRCh37)
      Canonical SPDI:
      NC_000004.12:146057159:A:G
      Gene:
      LOC105377468 (Varview)
      Functional Consequence:
      intron_variant,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:
      3.

      rs1489910312 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        4:146052797 (GRCh38)
        4:146973949 (GRCh37)
        Canonical SPDI:
        NC_000004.12:146052796:C:T
        Gene:
        LOC105377468 (Varview)
        Functional Consequence:
        intron_variant,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:
        4.

        rs1489872433 [Homo sapiens]
          Variant type:
          SNV:
          Alleles:
          G>T
          Chromosome:
          no mapping
          Canonical SPDI:
          5.

          rs1489417640 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            4:146059818 (GRCh38)
            4:146980970 (GRCh37)
            Canonical SPDI:
            NC_000004.12:146059817:T:G
            Gene:
            LOC105377468 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1488975127 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              4:146053025 (GRCh38)
              4:146974177 (GRCh37)
              Canonical SPDI:
              NC_000004.12:146053024:G:A,NC_000004.12:146053024:G:T
              Gene:
              LOC105377468 (Varview)
              Functional Consequence:
              intron_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000008/2 (TOPMED)
              T=0.000021/3 (GnomAD)
              HGVS:
              7.

              rs1488077307 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                4:146054585 (GRCh38)
                4:146975737 (GRCh37)
                Canonical SPDI:
                NC_000004.12:146054584:G:T
                Gene:
                LOC105377468 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000011/3 (TOPMED)
                T=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1487962432 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  4:146058157 (GRCh38)
                  4:146979309 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:146058156:C:T
                  Gene:
                  LOC105377468 (Varview)
                  Functional Consequence:
                  intron_variant,upstream_transcript_variant,genic_upstream_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:
                  10.

                  rs1487650958 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    4:146059097 (GRCh38)
                    4:146980249 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:146059096:T:C
                    Gene:
                    LOC105377468 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    C=0.000008/2 (TOPMED)
                    HGVS:
                    11.

                    rs1487644710 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      4:146053649 (GRCh38)
                      4:146974801 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:146053648:T:A
                      Gene:
                      LOC105377468 (Varview)
                      Functional Consequence:
                      intron_variant,non_coding_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      12.

                      rs1486991482 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->A [Show Flanks]
                        Chromosome:
                        4:146055713 (GRCh38)
                        4:146976866 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:146055713:AAA:AAAA
                        Gene:
                        LOC105377468 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAA=0.000054/1 (ALFA)
                        A=0.000015/4 (TOPMED)
                        A=0.000029/4 (GnomAD)
                        A=0.000223/1 (Estonian)
                        HGVS:
                        13.

                        rs1486979894 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          4:146057701 (GRCh38)
                          4:146978853 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:146057700:T:G
                          Gene:
                          LOC105377468 (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          HGVS:
                          14.

                          rs1486415197 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            4:146056541 (GRCh38)
                            4:146977693 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:146056540:T:C
                            Gene:
                            LOC105377468 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            15.

                            rs1486384986 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              4:146057610 (GRCh38)
                              4:146978762 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:146057609:C:T
                              Gene:
                              LOC105377468 (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              16.

                              rs1485712124 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                4:146060864 (GRCh38)
                                4:146982016 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:146060863:G:A
                                Gene:
                                LOC105377468 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                HGVS:
                                17.

                                rs1485685797 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  4:146058176 (GRCh38)
                                  4:146979328 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:146058175:C:T
                                  Gene:
                                  LOC105377468 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  18.

                                  rs1485008821 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    4:146056768 (GRCh38)
                                    4:146977920 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:146056767:G:A
                                    Gene:
                                    LOC105377468 (Varview)
                                    Functional Consequence:
                                    intron_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    19.

                                    rs1484461353 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      4:146055699 (GRCh38)
                                      4:146976851 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:146055698:A:G
                                      Gene:
                                      LOC105377468 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:
                                      20.

                                      rs1484430106 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        4:146056644 (GRCh38)
                                        4:146977796 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:146056643:A:G
                                        Gene:
                                        LOC105377468 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000011/3 (TOPMED)
                                        HGVS:

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