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Links from Gene

Items: 1 to 20 of 9866

1.

rs1491500075 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->GGCTGG [Show Flanks]
    Chromosome:
    13:113842374 (GRCh38)
    13:114545348 (GRCh37)
    Canonical SPDI:
    NC_000013.11:113842374:GGGGCTGGGGCTGG:GGGGCTGGGGCTGGGGCTGG
    Gene:
    GAS6 (Varview), GAS6-AS1 (Varview)
    Functional Consequence:
    intron_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GGGGCTGGGGCTGGGGCTGG=0./0 (ALFA)
    GGGGCT=0.000008/2 (TOPMED)
    GGGGCT=0.000022/3 (GnomAD)
    HGVS:
    2.

    rs1491424137 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->AAAG [Show Flanks]
      Chromosome:
      13:113825258 (GRCh38)
      13:114528232 (GRCh37)
      Canonical SPDI:
      NC_000013.11:113825258::AAAG
      Gene:
      GAS6 (Varview), GAS6-AS1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      AAAG=0.0002/1 (ALFA)
      HGVS:
      3.

      rs1491286640 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AG>- [Show Flanks]
        Chromosome:
        13:113833887 (GRCh38)
        13:114536860 (GRCh37)
        Canonical SPDI:
        NC_000013.11:113833886:AG:
        Gene:
        GAS6 (Varview), GAS6-AS1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1491241606 [Homo sapiens]
          Variant type:
          SNV:
          Alleles:
          ->AGGA
          Chromosome:
          no mapping
          Canonical SPDI:
          5.

          rs1491172565 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->GTGGTGTGACAGGTCGGTGTGACAGGCA [Show Flanks]
            Chromosome:
            13:113833887 (GRCh38)
            13:114536861 (GRCh37)
            Canonical SPDI:
            NC_000013.11:113833887:GTGTGACAGGCAGTGGTGTGACAGGTCGGTGTGACAGGCA:GTGTGACAGGCAGTGGTGTGACAGGTCGGTGTGACAGGCAGTGGTGTGACAGGTCGGTGTGACAGGCA
            Gene:
            GAS6 (Varview), GAS6-AS1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency
            MAF:
            GTGTGACAGGCAGTGGTGTGACAGGTCG=0.000191/25 (GnomAD)
            HGVS:
            6.

            rs1491147105 has merged into rs112864001 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              CA>- [Show Flanks]
              Chromosome:
              13:113842184 (GRCh38)
              13:114545157 (GRCh37)
              Canonical SPDI:
              NC_000013.11:113842181:CACA:CA
              Gene:
              GAS6 (Varview), GAS6-AS1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              CACA=0.000796/13 (ALFA)
              -=0.000169/22 (GnomAD)
              -=0.001557/26 (TOMMO)
              HGVS:
              7.

              rs1491117503 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                AG>- [Show Flanks]
                Chromosome:
                13:113825258 (GRCh38)
                13:114528231 (GRCh37)
                Canonical SPDI:
                NC_000013.11:113825257:AG:
                Gene:
                GAS6 (Varview), GAS6-AS1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0./0 (ALFA)
                -=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1490779693 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  13:113830527 (GRCh38)
                  13:114533500 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:113830526:C:T
                  Gene:
                  GAS6 (Varview), GAS6-AS1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1490673221 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    13:113829493 (GRCh38)
                    13:114532466 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:113829492:A:C
                    Gene:
                    GAS6 (Varview), GAS6-AS1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1490500056 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      13:113816097 (GRCh38)
                      13:114519070 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:113816096:T:C
                      Gene:
                      TMEM255B (Varview), GAS6-AS1 (Varview)
                      Functional Consequence:
                      intron_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000038/5 (GnomAD)
                      HGVS:
                      11.

                      rs1490437714 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        13:113842079 (GRCh38)
                        13:114545052 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:113842078:A:G
                        Gene:
                        GAS6 (Varview), GAS6-AS1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1490410335 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          13:113840562 (GRCh38)
                          13:114543535 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:113840561:G:A,NC_000013.11:113840561:G:T
                          Gene:
                          GAS6 (Varview), GAS6-AS1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1490346111 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            13:113830127 (GRCh38)
                            13:114533100 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:113830126:C:T
                            Gene:
                            GAS6 (Varview), GAS6-AS1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1490284582 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              13:113821974 (GRCh38)
                              13:114524947 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:113821973:A:G
                              Gene:
                              GAS6 (Varview), GAS6-AS1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant,intron_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000007/1 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1490176174 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                13:113816666 (GRCh38)
                                13:114519639 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:113816665:G:A
                                Gene:
                                TMEM255B (Varview), GAS6-AS1 (Varview), LOC124903220 (Varview)
                                Functional Consequence:
                                intron_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1490088262 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  13:113840422 (GRCh38)
                                  13:114543395 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:113840421:G:A
                                  Gene:
                                  GAS6 (Varview), GAS6-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000015/4 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490082755 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    13:113841206 (GRCh38)
                                    13:114544179 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:113841205:G:A
                                    Gene:
                                    GAS6 (Varview), GAS6-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1489943656 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      13:113825397 (GRCh38)
                                      13:114528370 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:113825396:G:C
                                      Gene:
                                      GAS6 (Varview), GAS6-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000019/5 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1489748276 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        13:113824292 (GRCh38)
                                        13:114527265 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:113824291:G:A
                                        Gene:
                                        GAS6 (Varview), GAS6-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.00008/1 (ALFA)
                                        A=0.00001/1 (GnomAD)
                                        A=0.13708/400 (KOREAN)
                                        G=0.5/1 (SGDP_PRJ)
                                        HGVS:
                                        20.

                                        rs1489738360 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          13:113839715 (GRCh38)
                                          13:114542688 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:113839714:C:T
                                          Gene:
                                          GAS6 (Varview), GAS6-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (GnomAD_exomes)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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