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Links from Gene

Items: 1 to 20 of 1730

1.

rs1490879642 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    5:132000524 (GRCh38)
    5:131336217 (GRCh37)
    Canonical SPDI:
    NC_000005.10:132000523:G:T
    Gene:
    ACSL6 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000019/5 (TOPMED)
    T=0.000036/5 (GnomAD)
    HGVS:
    2.

    rs1490621925 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      5:132006753 (GRCh38)
      5:131342446 (GRCh37)
      Canonical SPDI:
      NC_000005.10:132006752:T:C
      Gene:
      ACSL6 (Varview), ACSL6-AS1 (Varview)
      Functional Consequence:
      intron_variant,non_coding_transcript_variant
      Validated:
      by frequency
      MAF:
      C=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1490589727 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        5:132006444 (GRCh38)
        5:131342137 (GRCh37)
        Canonical SPDI:
        NC_000005.10:132006443:G:A
        Gene:
        ACSL6 (Varview), ACSL6-AS1 (Varview)
        Functional Consequence:
        intron_variant,non_coding_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:
        4.

        rs1490501917 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          5:131999127 (GRCh38)
          5:131334820 (GRCh37)
          Canonical SPDI:
          NC_000005.10:131999126:A:G
          Gene:
          ACSL6 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          G=0.000038/10 (TOPMED)
          HGVS:
          5.

          rs1490296962 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            5:132007043 (GRCh38)
            5:131342736 (GRCh37)
            Canonical SPDI:
            NC_000005.10:132007042:A:G
            Gene:
            ACSL6 (Varview), ACSL6-AS1 (Varview)
            Functional Consequence:
            500B_downstream_variant,intron_variant,downstream_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:
            6.

            rs1489495156 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              5:132004743 (GRCh38)
              5:131340436 (GRCh37)
              Canonical SPDI:
              NC_000005.10:132004742:C:T
              Gene:
              ACSL6 (Varview), ACSL6-AS1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000071/1 (ALFA)
              T=0.000021/3 (GnomAD)
              T=0.000042/11 (TOPMED)
              HGVS:
              7.

              rs1489070027 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                5:132004347 (GRCh38)
                5:131340040 (GRCh37)
                Canonical SPDI:
                NC_000005.10:132004346:A:G
                Gene:
                ACSL6 (Varview), ACSL6-AS1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1488618518 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ATG>- [Show Flanks]
                  Chromosome:
                  5:132001125 (GRCh38)
                  5:131336818 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:132001123:GATG:G
                  Gene:
                  ACSL6 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.003456/41 (ALFA)
                  -=0.004594/1216 (TOPMED)
                  HGVS:
                  9.

                  rs1488465118 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    5:132006536 (GRCh38)
                    5:131342229 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:132006535:G:A
                    Gene:
                    ACSL6 (Varview), ACSL6-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000142/2 (ALFA)
                    A=0.000011/3 (TOPMED)
                    A=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1488191347 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      5:132004229 (GRCh38)
                      5:131339922 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:132004228:T:A
                      Gene:
                      ACSL6 (Varview), ACSL6-AS1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000023/6 (TOPMED)
                      A=0.000036/5 (GnomAD)
                      HGVS:
                      11.

                      rs1487951111 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        5:132003374 (GRCh38)
                        5:131339067 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:132003373:T:G
                        Gene:
                        ACSL6 (Varview), ACSL6-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.000071/1 (ALFA)
                        G=0.000011/3 (TOPMED)
                        G=0.000021/3 (GnomAD)
                        HGVS:
                        12.

                        rs1487115852 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          5:132003459 (GRCh38)
                          5:131339152 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:132003458:G:A
                          Gene:
                          ACSL6 (Varview), ACSL6-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1486655092 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            5:132000168 (GRCh38)
                            5:131335861 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:132000167:T:C
                            Gene:
                            ACSL6 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1486370807 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,T [Show Flanks]
                              Chromosome:
                              5:132003121 (GRCh38)
                              5:131338814 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:132003120:C:A,NC_000005.10:132003120:C:T
                              Gene:
                              ACSL6 (Varview), ACSL6-AS1 (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1486089458 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                5:132003605 (GRCh38)
                                5:131339298 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:132003604:G:A
                                Gene:
                                ACSL6 (Varview), ACSL6-AS1 (Varview)
                                Functional Consequence:
                                intron_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000008/2 (TOPMED)
                                A=0.000021/3 (GnomAD)
                                HGVS:
                                16.

                                rs1485639307 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  5:132001782 (GRCh38)
                                  5:131337475 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:132001781:A:G
                                  Gene:
                                  ACSL6 (Varview), ACSL6-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  G=0.00057/9 (TOMMO)
                                  G=0.00068/2 (KOREAN)
                                  G=0.00109/2 (Korea1K)
                                  HGVS:
                                  17.

                                  rs1485382446 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    5:132006660 (GRCh38)
                                    5:131342353 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:132006659:T:G
                                    Gene:
                                    ACSL6 (Varview), ACSL6-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000008/2 (TOPMED)
                                    G=0.000342/1 (KOREAN)
                                    HGVS:
                                    18.

                                    rs1485373110 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      5:132003680 (GRCh38)
                                      5:131339373 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:132003679:C:T
                                      Gene:
                                      ACSL6 (Varview), ACSL6-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant,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:
                                      19.

                                      rs1485151481 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        5:132002421 (GRCh38)
                                        5:131338114 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:132002420:G:C
                                        Gene:
                                        ACSL6 (Varview), ACSL6-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000014/2 (GnomAD)
                                        C=0.000015/4 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1484611387 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          5:132000895 (GRCh38)
                                          5:131336588 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:132000894:G:A
                                          Gene:
                                          ACSL6 (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:

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