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Links from Gene

Items: 1 to 20 of 1607

1.

rs1490856711 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    6:169964844 (GRCh38)
    6:-1 (GRCh37)
    Canonical SPDI:
    NC_000006.12:169964843:G:A
    Gene:
    LOC100131532 (Varview), LOC107986675 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490108324 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      6:169963002 (GRCh38)
      6:-1 (GRCh37)
      Canonical SPDI:
      NC_000006.12:169963001:A:G
      Gene:
      LOC100131532 (Varview), LOC107986675 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000011/3 (TOPMED)
      G=0.000029/4 (GnomAD)
      HGVS:
      3.

      rs1490043111 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        6:169964376 (GRCh38)
        6:-1 (GRCh37)
        Canonical SPDI:
        NC_000006.12:169964375:A:C
        Gene:
        LOC100131532 (Varview), LOC107986675 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1489944878 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          6:169962585 (GRCh38)
          6:-1 (GRCh37)
          Canonical SPDI:
          NC_000006.12:169962584:T:C
          Gene:
          LOC100131532 (Varview), LOC107986675 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000007/1 (GnomAD)
          C=0.000019/5 (TOPMED)
          HGVS:
          5.

          rs1489508436 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,G,T [Show Flanks]
            Chromosome:
            6:169965829 (GRCh38)
            6:-1 (GRCh37)
            Canonical SPDI:
            NC_000006.12:169965828:C:A,NC_000006.12:169965828:C:G,NC_000006.12:169965828:C:T
            Gene:
            LOC100131532 (Varview), LOC107986675 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000014/2 (GnomAD)
            T=0.000035/1 (TOMMO)
            T=0.000156/1 (1000Genomes)
            HGVS:
            6.

            rs1488636497 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              6:169962485 (GRCh38)
              6:-1 (GRCh37)
              Canonical SPDI:
              NC_000006.12:169962484:A:T
              Gene:
              LOC100131532 (Varview), LOC107986675 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              HGVS:
              7.

              rs1488512416 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C,T [Show Flanks]
                Chromosome:
                6:169963079 (GRCh38)
                6:-1 (GRCh37)
                Canonical SPDI:
                NC_000006.12:169963078:G:A,NC_000006.12:169963078:G:C,NC_000006.12:169963078:G:T
                Gene:
                LOC100131532 (Varview), LOC107986675 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1488463356 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  6:169962253 (GRCh38)
                  6:-1 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:169962252:T:G
                  Gene:
                  LOC100131532 (Varview), LOC107986675 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1488172490 has merged into rs878868242 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
                    Chromosome:
                    6:169961538 (GRCh38)
                    6:11 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:169961525:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTG,NC_000006.12:169961525:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000006.12:169961525:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000006.12:169961525:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000006.12:169961525:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:169961525:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:169961525:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:169961525:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:169961525:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:169961525:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:169961525:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:169961525:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:169961525:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
                    Gene:
                    LOC100131532 (Varview), LOC107986675 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TGTGTGTGTGTGTG=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1488138597 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      6:169961991 (GRCh38)
                      6:-1 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:169961990:G:C
                      Gene:
                      LOC100131532 (Varview), LOC107986675 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1487552029 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        6:169964906 (GRCh38)
                        6:-1 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:169964905:A:G
                        Gene:
                        LOC100131532 (Varview), LOC107986675 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000008/2 (TOPMED)
                        G=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1487546314 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          6:169964033 (GRCh38)
                          6:-1 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:169964032:G:A
                          Gene:
                          LOC100131532 (Varview), LOC107986675 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000019/5 (TOPMED)
                          HGVS:
                          13.

                          rs1487329934 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            6:169967565 (GRCh38)
                            6:-1 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:169967564:C:T
                            Gene:
                            LOC100131532 (Varview), LOC107986675 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1486744250 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              6:169960995 (GRCh38)
                              6:-1 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:169960994:G:A
                              Gene:
                              LOC100131532 (Varview), LOC107986675 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000008/2 (TOPMED)
                              A=0.000142/4 (TOMMO)
                              HGVS:
                              15.

                              rs1486304670 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                6:169961604 (GRCh38)
                                6:-1 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:169961603:C:A
                                Gene:
                                LOC100131532 (Varview), LOC107986675 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                A=0.000011/3 (TOPMED)
                                HGVS:
                                16.

                                rs1486182668 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C,G [Show Flanks]
                                  Chromosome:
                                  6:169963888 (GRCh38)
                                  6:-1 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:169963887:T:C,NC_000006.12:169963887:T:G
                                  Gene:
                                  LOC100131532 (Varview), LOC107986675 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.01555/145 (ALFA)
                                  C=0.00057/16 (TOMMO)
                                  C=0.00391/362 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1486177180 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    6:169961379 (GRCh38)
                                    6:-1 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:169961378:A:G
                                    Gene:
                                    LOC100131532 (Varview), LOC107986675 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0.000071/1 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1485753476 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      6:169968073 (GRCh38)
                                      6:-1 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:169968072:G:T
                                      Gene:
                                      LOC100131532 (Varview), LOC107986675 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000036/5 (GnomAD)
                                      T=0.000053/14 (TOPMED)
                                      T=0.000602/17 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1485701858 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        6:169966960 (GRCh38)
                                        6:-1 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:169966959:C:T
                                        Gene:
                                        LOC100131532 (Varview), LOC107986675 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000011/3 (TOPMED)
                                        T=0.000021/3 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1485596194 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          6:169964081 (GRCh38)
                                          6:-1 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:169964080:G:A,NC_000006.12:169964080:G:T
                                          Gene:
                                          LOC100131532 (Varview), LOC107986675 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000014/2 (GnomAD)
                                          HGVS:

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