U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 6876

1.

rs1491186262 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    19:37843953 (GRCh38)
    19:38334593 (GRCh37)
    Canonical SPDI:
    NC_000019.10:37843952:CA:
    Gene:
    WDR87BP (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0.00034/4 (ALFA)
    -=0.00043/12 (TOMMO)
    HGVS:
    2.

    rs1491059634 has merged into rs11375380 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      19:37845431 (GRCh38)
      19:38336071 (GRCh37)
      Canonical SPDI:
      NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      WDR87BP (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAA=0./0 (ALFA)
      A=0.3/12 (GENOME_DK)
      -=0.4852/2430 (1000Genomes)
      HGVS:
      NC_000019.10:g.37845431_37845439del, NC_000019.10:g.37845433_37845439del, NC_000019.10:g.37845434_37845439del, NC_000019.10:g.37845435_37845439del, NC_000019.10:g.37845436_37845439del, NC_000019.10:g.37845437_37845439del, NC_000019.10:g.37845438_37845439del, NC_000019.10:g.37845439del, NC_000019.10:g.37845439dup, NC_000019.10:g.37845438_37845439dup, NC_000019.10:g.37845437_37845439dup, NC_000019.10:g.37845435_37845439dup, NC_000019.10:g.37845434_37845439dup, NC_000019.10:g.37845430_37845439dup, NC_000019.10:g.37845429_37845439dup, NC_000019.10:g.37845428_37845439dup, NC_000019.10:g.37845427_37845439dup, NC_000019.10:g.37845426_37845439dup, NC_000019.10:g.37845425_37845439dup, NC_000019.10:g.37845424_37845439dup, NC_000019.10:g.37845439_37845440insAAAAAAAAAAAAAAAAAA, NC_000019.10:g.37845439_37845440insAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.37845439_37845440insAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.37845439_37845440insAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.37845439_37845440insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.37845439_37845440insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.38336071_38336079del, NC_000019.9:g.38336073_38336079del, NC_000019.9:g.38336074_38336079del, NC_000019.9:g.38336075_38336079del, NC_000019.9:g.38336076_38336079del, NC_000019.9:g.38336077_38336079del, NC_000019.9:g.38336078_38336079del, NC_000019.9:g.38336079del, NC_000019.9:g.38336079dup, NC_000019.9:g.38336078_38336079dup, NC_000019.9:g.38336077_38336079dup, NC_000019.9:g.38336075_38336079dup, NC_000019.9:g.38336074_38336079dup, NC_000019.9:g.38336070_38336079dup, NC_000019.9:g.38336069_38336079dup, NC_000019.9:g.38336068_38336079dup, NC_000019.9:g.38336067_38336079dup, NC_000019.9:g.38336066_38336079dup, NC_000019.9:g.38336065_38336079dup, NC_000019.9:g.38336064_38336079dup, NC_000019.9:g.38336079_38336080insAAAAAAAAAAAAAAAAAA, NC_000019.9:g.38336079_38336080insAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.38336079_38336080insAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.38336079_38336080insAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.38336079_38336080insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.38336079_38336080insAAAAAAAAAAAAAAAAAAAAAAAAAA
      3.

      rs1491056048 has merged into rs369430669 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        19:37851567 (GRCh38)
        19:38342207 (GRCh37)
        Canonical SPDI:
        NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        WDR87BP (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTTTTTTTT=0./0 (ALFA)
        HGVS:
        NC_000019.10:g.37851567_37851574del, NC_000019.10:g.37851569_37851574del, NC_000019.10:g.37851570_37851574del, NC_000019.10:g.37851572_37851574del, NC_000019.10:g.37851573_37851574del, NC_000019.10:g.37851574del, NC_000019.10:g.37851574dup, NC_000019.10:g.37851573_37851574dup, NC_000019.10:g.37851572_37851574dup, NC_000019.10:g.37851571_37851574dup, NC_000019.10:g.37851570_37851574dup, NC_000019.10:g.37851569_37851574dup, NC_000019.10:g.37851568_37851574dup, NC_000019.10:g.37851566_37851574dup, NC_000019.10:g.37851565_37851574dup, NC_000019.10:g.37851562_37851574dup, NC_000019.10:g.37851574_37851575insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.37851574_37851575insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.38342207_38342214del, NC_000019.9:g.38342209_38342214del, NC_000019.9:g.38342210_38342214del, NC_000019.9:g.38342212_38342214del, NC_000019.9:g.38342213_38342214del, NC_000019.9:g.38342214del, NC_000019.9:g.38342214dup, NC_000019.9:g.38342213_38342214dup, NC_000019.9:g.38342212_38342214dup, NC_000019.9:g.38342211_38342214dup, NC_000019.9:g.38342210_38342214dup, NC_000019.9:g.38342209_38342214dup, NC_000019.9:g.38342208_38342214dup, NC_000019.9:g.38342206_38342214dup, NC_000019.9:g.38342205_38342214dup, NC_000019.9:g.38342202_38342214dup, NC_000019.9:g.38342214_38342215insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.38342214_38342215insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
        4.

        rs1491046251 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          TG>- [Show Flanks]
          Chromosome:
          19:37851574 (GRCh38)
          19:38342214 (GRCh37)
          Canonical SPDI:
          NC_000019.10:37851573:TG:
          Gene:
          WDR87BP (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0.00017/2 (ALFA)
          HGVS:
          5.

          rs1490990098 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            19:37847720 (GRCh38)
            19:38338360 (GRCh37)
            Canonical SPDI:
            NC_000019.10:37847719:A:G
            Gene:
            WDR87BP (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000033/4 (GnomAD)
            HGVS:
            6.

            rs1490959119 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              19:37843033 (GRCh38)
              19:38333673 (GRCh37)
              Canonical SPDI:
              NC_000019.10:37843032:T:G
              Gene:
              WDR87BP (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.0043/51 (ALFA)
              G=0.00209/7 (GnomAD)
              G=0.00453/29 (1000Genomes)
              T=0.5/1 (SGDP_PRJ)
              HGVS:
              7.

              rs1490576819 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                19:37831460 (GRCh38)
                19:38322100 (GRCh37)
                Canonical SPDI:
                NC_000019.10:37831459:C:T
                Gene:
                WDR87BP (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000019/5 (TOPMED)
                T=0.000029/4 (GnomAD)
                T=0.000035/1 (TOMMO)
                HGVS:
                8.

                rs1490550389 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  19:37832535 (GRCh38)
                  19:38323175 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:37832534:A:G
                  Gene:
                  WDR87BP (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1490459305 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    19:37838297 (GRCh38)
                    19:38328937 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:37838296:T:G
                    Gene:
                    WDR87BP (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1490393377 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      19:37839413 (GRCh38)
                      19:38330053 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:37839412:G:A
                      Gene:
                      WDR87BP (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1490252376 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        19:37830455 (GRCh38)
                        19:38321095 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:37830454:A:G
                        Gene:
                        WDR87BP (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1490227470 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          19:37831590 (GRCh38)
                          19:38322230 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:37831589:C:T
                          Gene:
                          WDR87BP (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1490213247 [Homo sapiens]
                            Variant type:
                            SNV:
                            Alleles:
                            T>C
                            Chromosome:
                            no mapping
                            Canonical SPDI:
                            14.

                            rs1490115451 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              19:37854482 (GRCh38)
                              19:38345122 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:37854481:C:T
                              Gene:
                              WDR87BP (Varview), LOC105372395 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000011/3 (TOPMED)
                              HGVS:
                              15.

                              rs1490102664 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                19:37838463 (GRCh38)
                                19:38329103 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:37838462:C:T
                                Gene:
                                WDR87BP (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1490044978 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  19:37855177 (GRCh38)
                                  19:38345817 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:37855176:C:T
                                  Gene:
                                  WDR87BP (Varview), LOC105372395 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489968924 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    GGTAAACA>- [Show Flanks]
                                    Chromosome:
                                    19:37837969 (GRCh38)
                                    19:38328609 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:37837967:AGGTAAACA:A
                                    Gene:
                                    WDR87BP (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    -=0.000019/5 (TOPMED)
                                    -=0.000021/3 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1489953300 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      19:37838019 (GRCh38)
                                      19:38328659 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:37838018:C:G,NC_000019.10:37838018:C:T
                                      Gene:
                                      WDR87BP (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1489846171 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        19:37847283 (GRCh38)
                                        19:38337923 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:37847282:A:G
                                        Gene:
                                        WDR87BP (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:
                                        20.

                                        rs1489843974 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          19:37838287 (GRCh38)
                                          19:38328927 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:37838286:G:A,NC_000019.10:37838286:G:C
                                          Gene:
                                          WDR87BP (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          A=0.00011/8 (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...