Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 4956

1.

rs1491544210 has merged into rs1160152790 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    4:70672013 (GRCh38)
    4:71537730 (GRCh37)
    Canonical SPDI:
    NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70672003:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAA=0./0 (ALFA)
    HGVS:
    NC_000004.12:g.70672013_70672028del, NC_000004.12:g.70672014_70672028del, NC_000004.12:g.70672015_70672028del, NC_000004.12:g.70672016_70672028del, NC_000004.12:g.70672017_70672028del, NC_000004.12:g.70672018_70672028del, NC_000004.12:g.70672019_70672028del, NC_000004.12:g.70672020_70672028del, NC_000004.12:g.70672021_70672028del, NC_000004.12:g.70672022_70672028del, NC_000004.12:g.70672023_70672028del, NC_000004.12:g.70672024_70672028del, NC_000004.12:g.70672025_70672028del, NC_000004.12:g.70672026_70672028del, NC_000004.12:g.70672027_70672028del, NC_000004.12:g.70672028del, NC_000004.12:g.70672028dup, NC_000004.12:g.70672027_70672028dup, NC_000004.12:g.70672026_70672028dup, NC_000004.12:g.70672025_70672028dup, NC_000004.12:g.70672024_70672028dup, NC_000004.12:g.70672023_70672028dup, NC_000004.12:g.70672022_70672028dup, NC_000004.12:g.70672021_70672028dup, NC_000004.12:g.70672020_70672028dup, NC_000004.12:g.70672019_70672028dup, NC_000004.12:g.70672018_70672028dup, NC_000004.12:g.70672016_70672028dup, NC_000004.12:g.70672015_70672028dup, NC_000004.12:g.70672010_70672028dup, NC_000004.12:g.70672005_70672028dup, NC_000004.12:g.70672028_70672029insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.70672028_70672029insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.70672028_70672029insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.70672028_70672029insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.71537730_71537745del, NC_000004.11:g.71537731_71537745del, NC_000004.11:g.71537732_71537745del, NC_000004.11:g.71537733_71537745del, NC_000004.11:g.71537734_71537745del, NC_000004.11:g.71537735_71537745del, NC_000004.11:g.71537736_71537745del, NC_000004.11:g.71537737_71537745del, NC_000004.11:g.71537738_71537745del, NC_000004.11:g.71537739_71537745del, NC_000004.11:g.71537740_71537745del, NC_000004.11:g.71537741_71537745del, NC_000004.11:g.71537742_71537745del, NC_000004.11:g.71537743_71537745del, NC_000004.11:g.71537744_71537745del, NC_000004.11:g.71537745del, NC_000004.11:g.71537745dup, NC_000004.11:g.71537744_71537745dup, NC_000004.11:g.71537743_71537745dup, NC_000004.11:g.71537742_71537745dup, NC_000004.11:g.71537741_71537745dup, NC_000004.11:g.71537740_71537745dup, NC_000004.11:g.71537739_71537745dup, NC_000004.11:g.71537738_71537745dup, NC_000004.11:g.71537737_71537745dup, NC_000004.11:g.71537736_71537745dup, NC_000004.11:g.71537735_71537745dup, NC_000004.11:g.71537733_71537745dup, NC_000004.11:g.71537732_71537745dup, NC_000004.11:g.71537727_71537745dup, NC_000004.11:g.71537722_71537745dup, NC_000004.11:g.71537745_71537746insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.71537745_71537746insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.71537745_71537746insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.71537745_71537746insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    2.

    rs1491454410 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      4:70672003 (GRCh38)
      4:71537720 (GRCh37)
      Canonical SPDI:
      NC_000004.12:70672002:CA:
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:
      3.

      rs1490979900 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        4:70671649 (GRCh38)
        4:71537366 (GRCh37)
        Canonical SPDI:
        NC_000004.12:70671648:G:A
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1490953936 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          4:70670311 (GRCh38)
          4:71536028 (GRCh37)
          Canonical SPDI:
          NC_000004.12:70670310:A:G
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          G=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1490889480 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            4:70655704 (GRCh38)
            4:71521421 (GRCh37)
            Canonical SPDI:
            NC_000004.12:70655703:T:C
            Gene:
            JCHAIN (Varview)
            Functional Consequence:
            3_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490628921 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              4:70662347 (GRCh38)
              4:71528064 (GRCh37)
              Canonical SPDI:
              NC_000004.12:70662346:T:C
              Gene:
              JCHAIN (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000023/6 (TOPMED)
              C=0.00005/7 (GnomAD)
              HGVS:
              7.

              rs1490513074 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                4:70676330 (GRCh38)
                4:71542047 (GRCh37)
                Canonical SPDI:
                NC_000004.12:70676329:A:G
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.000071/1 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1490380651 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  4:70673682 (GRCh38)
                  4:71539399 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:70673681:C:T
                  Validated:
                  by frequency
                  MAF:
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490304284 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    4:70659287 (GRCh38)
                    4:71525004 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:70659286:C:A,NC_000004.12:70659286:C:T
                    Gene:
                    JCHAIN (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1489833138 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      4:70655793 (GRCh38)
                      4:71521510 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:70655792:A:G
                      Gene:
                      JCHAIN (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.000071/1 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1489818229 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        4:70658250 (GRCh38)
                        4:71523967 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:70658249:C:A
                        Gene:
                        JCHAIN (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000023/6 (TOPMED)
                        HGVS:
                        12.

                        rs1489744423 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          4:70655057 (GRCh38)
                          4:71520774 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:70655056:G:A
                          Gene:
                          JCHAIN (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,500B_downstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000011/3 (TOPMED)
                          A=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1489621532 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            4:70672000 (GRCh38)
                            4:71537717 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:70671999:T:C
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.00017/2 (ALFA)
                            C=0.00001/1 (GnomAD)
                            HGVS:
                            14.

                            rs1489167389 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              T>- [Show Flanks]
                              Chromosome:
                              4:70678213 (GRCh38)
                              4:71543930 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:70678212:T:
                              Gene:
                              LOC101927297 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              -=0.000071/1 (ALFA)
                              -=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1489147922 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                4:70661802 (GRCh38)
                                4:71527519 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:70661801:T:C
                                Gene:
                                JCHAIN (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000014/2 (GnomAD)
                                C=0.000019/5 (TOPMED)
                                HGVS:
                                16.

                                rs1489089349 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  4:70655951 (GRCh38)
                                  4:71521668 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:70655950:A:G
                                  Gene:
                                  JCHAIN (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1488988903 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TTA>- [Show Flanks]
                                    Chromosome:
                                    4:70657059 (GRCh38)
                                    4:71522776 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:70657057:ATTA:A
                                    Gene:
                                    JCHAIN (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    -=0.000007/1 (GnomAD)
                                    -=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1488943885 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      4:70672250 (GRCh38)
                                      4:71537967 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:70672249:C:T
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1488764596 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        4:70655601 (GRCh38)
                                        4:71521318 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:70655600:A:G
                                        Gene:
                                        JCHAIN (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1488661620 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          4:70677618 (GRCh38)
                                          4:71543335 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:70677617:C:G
                                          Gene:
                                          LOC101927297 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Find related data

                                          Recent activity

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...
                                          Support Center