Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 4884

1.

rs1491485357 has merged into rs71984552 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTT>-,T,TT,TTTT,TTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    12:4553649 (GRCh38)
    12:4662815 (GRCh37)
    Canonical SPDI:
    NC_000012.12:4553638:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:4553638:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:4553638:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:4553638:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:4553638:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:4553638:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:4553638:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    RAD51AP1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTT=0./0 (ALFA)
    -=0.15833/95 (NorthernSweden)
    -=0.22366/862 (ALSPAC)
    -=0.23544/873 (TWINSUK)
    -=0.29054/1455 (1000Genomes)
    -=0.325/13 (GENOME_DK)
    HGVS:
    2.

    rs1491292109 has merged into rs34322898 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAAAAA [Show Flanks]
      Chromosome:
      12:4540568 (GRCh38)
      12:4649734 (GRCh37)
      Canonical SPDI:
      NC_000012.12:4540553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:4540553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:4540553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:4540553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:4540553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:4540553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:4540553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      RAD51AP1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
      -=0.425/17 (GENOME_DK)
      HGVS:
      3.

      rs1491283773 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CT>- [Show Flanks]
        Chromosome:
        12:4553638 (GRCh38)
        12:4662804 (GRCh37)
        Canonical SPDI:
        NC_000012.12:4553637:CT:
        Gene:
        RAD51AP1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        HGVS:
        4.

        rs1491258322 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          AG>- [Show Flanks]
          Chromosome:
          12:4551511 (GRCh38)
          12:4660677 (GRCh37)
          Canonical SPDI:
          NC_000012.12:4551510:AG:
          Gene:
          RAD51AP1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0.000084/1 (ALFA)
          -=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1491117282 has merged into rs11435226 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TT>-,T,TTT,TTTT [Show Flanks]
            Chromosome:
            12:4554056 (GRCh38)
            12:4663222 (GRCh37)
            Canonical SPDI:
            NC_000012.12:4554047:TTTTTTTTTT:TTTTTTTT,NC_000012.12:4554047:TTTTTTTTTT:TTTTTTTTT,NC_000012.12:4554047:TTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:4554047:TTTTTTTTTT:TTTTTTTTTTTT
            Gene:
            RAD51AP1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTT=0./0 (ALFA)
            -=0.0071/13 (Korea1K)
            -=0.1092/501 (1000Genomes)
            HGVS:
            6.

            rs1491025311 has merged into rs34322898 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAAAAA [Show Flanks]
              Chromosome:
              12:4540568 (GRCh38)
              12:4649734 (GRCh37)
              Canonical SPDI:
              NC_000012.12:4540553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:4540553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:4540553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:4540553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:4540553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:4540553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:4540553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
              Gene:
              RAD51AP1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
              -=0.425/17 (GENOME_DK)
              HGVS:
              7.

              rs1491009604 has merged into rs11435226 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TT>-,T,TTT,TTTT [Show Flanks]
                Chromosome:
                12:4554056 (GRCh38)
                12:4663222 (GRCh37)
                Canonical SPDI:
                NC_000012.12:4554047:TTTTTTTTTT:TTTTTTTT,NC_000012.12:4554047:TTTTTTTTTT:TTTTTTTTT,NC_000012.12:4554047:TTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:4554047:TTTTTTTTTT:TTTTTTTTTTTT
                Gene:
                RAD51AP1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTTTT=0./0 (ALFA)
                -=0.0071/13 (Korea1K)
                -=0.1092/501 (1000Genomes)
                HGVS:
                8.

                rs1490881391 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G,T [Show Flanks]
                  Chromosome:
                  12:4559087 (GRCh38)
                  12:4668253 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:4559086:A:G,NC_000012.12:4559086:A:T
                  Gene:
                  RAD51AP1 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1490807409 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    12:4540221 (GRCh38)
                    12:4649387 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:4540220:A:T
                    Gene:
                    RAD51AP1 (Varview), C12orf4 (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1490715664 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      12:4553697 (GRCh38)
                      12:4662863 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:4553696:C:T
                      Gene:
                      RAD51AP1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000029/4 (GnomAD)
                      T=0.000179/3 (TOMMO)
                      T=0.000546/1 (Korea1K)
                      T=0.00463/1 (Vietnamese)
                      HGVS:
                      11.

                      rs1490651767 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        12:4551101 (GRCh38)
                        12:4660267 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:4551100:A:G
                        Gene:
                        RAD51AP1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1490564857 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          12:4548450 (GRCh38)
                          12:4657616 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:4548449:T:G
                          Gene:
                          RAD51AP1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.000071/1 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1490534332 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            12:4548272 (GRCh38)
                            12:4657438 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:4548271:T:A
                            Gene:
                            RAD51AP1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            A=0./0 (KOREAN)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1490408522 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              12:4548094 (GRCh38)
                              12:4657260 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:4548093:A:G
                              Gene:
                              RAD51AP1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1490390343 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                A>- [Show Flanks]
                                Chromosome:
                                12:4558500 (GRCh38)
                                12:4667666 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:4558499:AAAAA:AAAA
                                Gene:
                                RAD51AP1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAAA=0.000071/1 (ALFA)
                                -=0.000036/5 (GnomAD)
                                -=0.000049/13 (TOPMED)
                                HGVS:
                                16.

                                rs1490296951 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  12:4551771 (GRCh38)
                                  12:4660937 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:4551770:G:A,NC_000012.12:4551770:G:T
                                  Gene:
                                  RAD51AP1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490138861 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    12:4545778 (GRCh38)
                                    12:4654944 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:4545777:G:A
                                    Gene:
                                    RAD51AP1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0.00005/1 (ALFA)
                                    HGVS:
                                    18.

                                    rs1490061933 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      12:4559666 (GRCh38)
                                      12:4668832 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:4559665:T:C
                                      Gene:
                                      RAD51AP1 (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:
                                      19.

                                      rs1489922415 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        12:4545255 (GRCh38)
                                        12:4654421 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:4545254:C:G
                                        Gene:
                                        RAD51AP1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000016/2 (GnomAD_exomes)
                                        G=0.00006/1 (TOMMO)
                                        G=0.001092/2 (Korea1K)
                                        G=0.001711/5 (KOREAN)
                                        HGVS:
                                        20.

                                        rs1489641553 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          12:4549591 (GRCh38)
                                          12:4658757 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:4549590:C:T
                                          Gene:
                                          RAD51AP1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000019/5 (TOPMED)
                                          T=0.000043/6 (GnomAD)
                                          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