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Items: 1 to 20 of 1727

1.

rs1491078670 has merged into rs34141082 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AA>-,A,AAA,AAAA [Show Flanks]
    Chromosome:
    18:10667010 (GRCh38)
    18:10667007 (GRCh37)
    Canonical SPDI:
    NC_000018.10:10667000:AAAAAAAAAAA:AAAAAAAAA,NC_000018.10:10667000:AAAAAAAAAAA:AAAAAAAAAA,NC_000018.10:10667000:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:10667000:AAAAAAAAAAA:AAAAAAAAAAAAA
    Gene:
    LOC101927410 (Varview)
    Functional Consequence:
    500B_downstream_variant,downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAA=0./0 (ALFA)
    A=0.1417/85 (NorthernSweden)
    A=0.2087/774 (TWINSUK)
    A=0.2154/215 (GoNL)
    A=0.2237/862 (ALSPAC)
    A=0.2282/418 (Korea1K)
    A=0.2591/1273 (1000Genomes)
    A=0.35/14 (GENOME_DK)
    HGVS:
    2.

    rs1490862006 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>T [Show Flanks]
      Chromosome:
      18:10663887 (GRCh38)
      18:10663884 (GRCh37)
      Canonical SPDI:
      NC_000018.10:10663886:A:T
      Gene:
      LOC101927410 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1490094837 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        18:10664251 (GRCh38)
        18:10664248 (GRCh37)
        Canonical SPDI:
        NC_000018.10:10664250:A:G
        Gene:
        LOC101927410 (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1489688866 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          18:10660334 (GRCh38)
          18:10660331 (GRCh37)
          Canonical SPDI:
          NC_000018.10:10660333:C:T
          Gene:
          LOC101927410 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000071/1 (ALFA)
          T=0.000021/3 (GnomAD)
          T=0.000026/7 (TOPMED)
          HGVS:
          5.

          rs1489290018 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            18:10660624 (GRCh38)
            18:10660621 (GRCh37)
            Canonical SPDI:
            NC_000018.10:10660623:G:T
            Gene:
            LOC101927410 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.0002/1 (ALFA)
            T=0.0002/1 (Estonian)
            HGVS:
            6.

            rs1489081075 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              18:10665970 (GRCh38)
              18:10665967 (GRCh37)
              Canonical SPDI:
              NC_000018.10:10665969:A:C
              Gene:
              LOC101927410 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1489050843 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                18:10666932 (GRCh38)
                18:10666929 (GRCh37)
                Canonical SPDI:
                NC_000018.10:10666931:T:C
                Gene:
                LOC101927410 (Varview)
                Functional Consequence:
                500B_downstream_variant,downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1489041783 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  18:10666509 (GRCh38)
                  18:10666506 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:10666508:G:C
                  Gene:
                  LOC101927410 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1487953955 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    18:10665289 (GRCh38)
                    18:10665286 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:10665288:C:A,NC_000018.10:10665288:C:T
                    Gene:
                    LOC101927410 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1487341021 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      T>- [Show Flanks]
                      Chromosome:
                      18:10662891 (GRCh38)
                      18:10662888 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:10662890:TTTT:TTT
                      Gene:
                      LOC101927410 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      TTT=0./0 (ALFA)
                      -=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1487205758 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        18:10665025 (GRCh38)
                        18:10665022 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:10665024:C:G
                        Gene:
                        LOC101927410 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1486995138 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          18:10664172 (GRCh38)
                          18:10664169 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:10664171:G:C
                          Gene:
                          LOC101927410 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1486906848 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            18:10660350 (GRCh38)
                            18:10660347 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:10660349:G:C
                            Gene:
                            LOC101927410 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0.000071/1 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1486878355 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              18:10661253 (GRCh38)
                              18:10661250 (GRCh37)
                              Canonical SPDI:
                              NC_000018.10:10661252:G:C
                              Gene:
                              LOC101927410 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1486835966 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                18:10664171 (GRCh38)
                                18:10664168 (GRCh37)
                                Canonical SPDI:
                                NC_000018.10:10664170:T:C
                                Gene:
                                LOC101927410 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1486571987 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,T [Show Flanks]
                                  Chromosome:
                                  18:10660643 (GRCh38)
                                  18:10660640 (GRCh37)
                                  Canonical SPDI:
                                  NC_000018.10:10660642:C:A,NC_000018.10:10660642:C:T
                                  Gene:
                                  LOC101927410 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1486249255 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    18:10660233 (GRCh38)
                                    18:10660230 (GRCh37)
                                    Canonical SPDI:
                                    NC_000018.10:10660232:T:C
                                    Gene:
                                    LOC101927410 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1485478047 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      18:10666388 (GRCh38)
                                      18:10666385 (GRCh37)
                                      Canonical SPDI:
                                      NC_000018.10:10666387:C:T
                                      Gene:
                                      LOC101927410 (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:
                                      19.

                                      rs1484888275 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        18:10663315 (GRCh38)
                                        18:10663312 (GRCh37)
                                        Canonical SPDI:
                                        NC_000018.10:10663314:A:C
                                        Gene:
                                        LOC101927410 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000021/3 (GnomAD)
                                        C=0.000038/10 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1484753833 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          A>- [Show Flanks]
                                          Chromosome:
                                          18:10662393 (GRCh38)
                                          18:10662390 (GRCh37)
                                          Canonical SPDI:
                                          NC_000018.10:10662392:A:
                                          Gene:
                                          LOC101927410 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          -=0./0 (ALFA)
                                          -=0.000008/2 (TOPMED)
                                          -=0.000035/1 (TOMMO)
                                          HGVS:

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