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 6363

1.

rs1491482753 has merged into rs61286977 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CACACA>-,CA,CACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
    Chromosome:
    20:34950030 (GRCh38)
    20:33537833 (GRCh37)
    Canonical SPDI:
    NC_000020.11:34950013:CACACACACACACACACACACA:CACACACACACACACA,NC_000020.11:34950013:CACACACACACACACACACACA:CACACACACACACACACA,NC_000020.11:34950013:CACACACACACACACACACACA:CACACACACACACACACACA,NC_000020.11:34950013:CACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000020.11:34950013:CACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000020.11:34950013:CACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000020.11:34950013:CACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000020.11:34950013:CACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000020.11:34950013:CACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000020.11:34950013:CACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000020.11:34950013:CACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000020.11:34950013:CACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000020.11:34950013:CACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000020.11:34950013:CACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000020.11:34950013:CACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000020.11:34950013:CACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000020.11:34950013:CACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000020.11:34950013:CACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000020.11:34950013:CACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000020.11:34950013:CACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000020.11:34950013:CACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000020.11:34950013:CACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000020.11:34950013:CACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000020.11:34950013:CACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000020.11:34950013:CACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000020.11:34950013:CACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000020.11:34950013:CACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000020.11:34950013:CACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
    Gene:
    GSS (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CACACACACACACACACACACACA=0./0 (ALFA)
    -=0.425/17 (GENOME_DK)
    HGVS:
    NC_000020.11:g.34950014CA[8], NC_000020.11:g.34950014CA[9], NC_000020.11:g.34950014CA[10], NC_000020.11:g.34950014CA[12], NC_000020.11:g.34950014CA[13], NC_000020.11:g.34950014CA[14], NC_000020.11:g.34950014CA[15], NC_000020.11:g.34950014CA[16], NC_000020.11:g.34950014CA[17], NC_000020.11:g.34950014CA[18], NC_000020.11:g.34950014CA[19], NC_000020.11:g.34950014CA[20], NC_000020.11:g.34950014CA[21], NC_000020.11:g.34950014CA[22], NC_000020.11:g.34950014CA[23], NC_000020.11:g.34950014CA[24], NC_000020.11:g.34950014CA[25], NC_000020.11:g.34950014CA[26], NC_000020.11:g.34950014CA[27], NC_000020.11:g.34950014CA[28], NC_000020.11:g.34950014CA[29], NC_000020.11:g.34950014CA[30], NC_000020.11:g.34950014CA[31], NC_000020.11:g.34950014CA[32], NC_000020.11:g.34950014CA[33], NC_000020.11:g.34950014CA[34], NC_000020.11:g.34950014CA[36], NC_000020.11:g.34950014CA[40], NC_000020.10:g.33537817CA[8], NC_000020.10:g.33537817CA[9], NC_000020.10:g.33537817CA[10], NC_000020.10:g.33537817CA[12], NC_000020.10:g.33537817CA[13], NC_000020.10:g.33537817CA[14], NC_000020.10:g.33537817CA[15], NC_000020.10:g.33537817CA[16], NC_000020.10:g.33537817CA[17], NC_000020.10:g.33537817CA[18], NC_000020.10:g.33537817CA[19], NC_000020.10:g.33537817CA[20], NC_000020.10:g.33537817CA[21], NC_000020.10:g.33537817CA[22], NC_000020.10:g.33537817CA[23], NC_000020.10:g.33537817CA[24], NC_000020.10:g.33537817CA[25], NC_000020.10:g.33537817CA[26], NC_000020.10:g.33537817CA[27], NC_000020.10:g.33537817CA[28], NC_000020.10:g.33537817CA[29], NC_000020.10:g.33537817CA[30], NC_000020.10:g.33537817CA[31], NC_000020.10:g.33537817CA[32], NC_000020.10:g.33537817CA[33], NC_000020.10:g.33537817CA[34], NC_000020.10:g.33537817CA[36], NC_000020.10:g.33537817CA[40], NG_008848.2:g.10993TG[8], NG_008848.2:g.10993TG[9], NG_008848.2:g.10993TG[10], NG_008848.2:g.10993TG[12], NG_008848.2:g.10993TG[13], NG_008848.2:g.10993TG[14], NG_008848.2:g.10993TG[15], NG_008848.2:g.10993TG[16], NG_008848.2:g.10993TG[17], NG_008848.2:g.10993TG[18], NG_008848.2:g.10993TG[19], NG_008848.2:g.10993TG[20], NG_008848.2:g.10993TG[21], NG_008848.2:g.10993TG[22], NG_008848.2:g.10993TG[23], NG_008848.2:g.10993TG[24], NG_008848.2:g.10993TG[25], NG_008848.2:g.10993TG[26], NG_008848.2:g.10993TG[27], NG_008848.2:g.10993TG[28], NG_008848.2:g.10993TG[29], NG_008848.2:g.10993TG[30], NG_008848.2:g.10993TG[31], NG_008848.2:g.10993TG[32], NG_008848.2:g.10993TG[33], NG_008848.2:g.10993TG[34], NG_008848.2:g.10993TG[36], NG_008848.2:g.10993TG[40]

    2.

    rs1491253844 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->TCACACACACACACA [Show Flanks]
      Chromosome:
      20:34950014 (GRCh38)
      20:33537818 (GRCh37)
      Canonical SPDI:
      NC_000020.11:34950014::TCACACACACACACA
      Gene:
      GSS (Varview)
      Functional Consequence:
      intron_variant
      HGVS:

      3.

      rs1491010537 has merged into rs71196770 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        20:34957493 (GRCh38)
        20:33545296 (GRCh37)
        Canonical SPDI:
        NC_000020.11:34957484:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000020.11:34957484:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000020.11:34957484:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:34957484:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:34957484:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:34957484:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:34957484:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:34957484:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:34957484:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:34957484:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:34957484:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:34957484:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:34957484:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34957484:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34957484:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34957484:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34957484:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34957484:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34957484:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34957484:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34957484:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        GSS (Varview), MYH7B (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTT=0./0 (ALFA)
        HGVS:
        NC_000020.11:g.34957493_34957505del, NC_000020.11:g.34957494_34957505del, NC_000020.11:g.34957495_34957505del, NC_000020.11:g.34957496_34957505del, NC_000020.11:g.34957498_34957505del, NC_000020.11:g.34957499_34957505del, NC_000020.11:g.34957500_34957505del, NC_000020.11:g.34957501_34957505del, NC_000020.11:g.34957502_34957505del, NC_000020.11:g.34957503_34957505del, NC_000020.11:g.34957504_34957505del, NC_000020.11:g.34957505del, NC_000020.11:g.34957505dup, NC_000020.11:g.34957504_34957505dup, NC_000020.11:g.34957503_34957505dup, NC_000020.11:g.34957502_34957505dup, NC_000020.11:g.34957501_34957505dup, NC_000020.11:g.34957500_34957505dup, NC_000020.11:g.34957499_34957505dup, NC_000020.11:g.34957496_34957505dup, NC_000020.11:g.34957495_34957505dup, NC_000020.10:g.33545296_33545308del, NC_000020.10:g.33545297_33545308del, NC_000020.10:g.33545298_33545308del, NC_000020.10:g.33545299_33545308del, NC_000020.10:g.33545301_33545308del, NC_000020.10:g.33545302_33545308del, NC_000020.10:g.33545303_33545308del, NC_000020.10:g.33545304_33545308del, NC_000020.10:g.33545305_33545308del, NC_000020.10:g.33545306_33545308del, NC_000020.10:g.33545307_33545308del, NC_000020.10:g.33545308del, NC_000020.10:g.33545308dup, NC_000020.10:g.33545307_33545308dup, NC_000020.10:g.33545306_33545308dup, NC_000020.10:g.33545305_33545308dup, NC_000020.10:g.33545304_33545308dup, NC_000020.10:g.33545303_33545308dup, NC_000020.10:g.33545302_33545308dup, NC_000020.10:g.33545299_33545308dup, NC_000020.10:g.33545298_33545308dup, NG_016984.2:g.6593_6605del, NG_016984.2:g.6594_6605del, NG_016984.2:g.6595_6605del, NG_016984.2:g.6596_6605del, NG_016984.2:g.6598_6605del, NG_016984.2:g.6599_6605del, NG_016984.2:g.6600_6605del, NG_016984.2:g.6601_6605del, NG_016984.2:g.6602_6605del, NG_016984.2:g.6603_6605del, NG_016984.2:g.6604_6605del, NG_016984.2:g.6605del, NG_016984.2:g.6605dup, NG_016984.2:g.6604_6605dup, NG_016984.2:g.6603_6605dup, NG_016984.2:g.6602_6605dup, NG_016984.2:g.6601_6605dup, NG_016984.2:g.6600_6605dup, NG_016984.2:g.6599_6605dup, NG_016984.2:g.6596_6605dup, NG_016984.2:g.6595_6605dup, NG_008848.2:g.3531_3543del, NG_008848.2:g.3532_3543del, NG_008848.2:g.3533_3543del, NG_008848.2:g.3534_3543del, NG_008848.2:g.3536_3543del, NG_008848.2:g.3537_3543del, NG_008848.2:g.3538_3543del, NG_008848.2:g.3539_3543del, NG_008848.2:g.3540_3543del, NG_008848.2:g.3541_3543del, NG_008848.2:g.3542_3543del, NG_008848.2:g.3543del, NG_008848.2:g.3543dup, NG_008848.2:g.3542_3543dup, NG_008848.2:g.3541_3543dup, NG_008848.2:g.3540_3543dup, NG_008848.2:g.3539_3543dup, NG_008848.2:g.3538_3543dup, NG_008848.2:g.3537_3543dup, NG_008848.2:g.3534_3543dup, NG_008848.2:g.3533_3543dup

        4.

        rs1490991101 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          20:34942068 (GRCh38)
          20:33529871 (GRCh37)
          Canonical SPDI:
          NC_000020.11:34942067:T:C
          Gene:
          GSS (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000014/2 (GnomAD)
          HGVS:

          5.

          rs1490935049 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            20:34936358 (GRCh38)
            20:33524161 (GRCh37)
            Canonical SPDI:
            NC_000020.11:34936357:A:G
            Gene:
            GSS (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000008/2 (TOPMED)
            HGVS:

            6.

            rs1490919983 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              20:34937836 (GRCh38)
              20:33525639 (GRCh37)
              Canonical SPDI:
              NC_000020.11:34937835:G:A,NC_000020.11:34937835:G:C
              Gene:
              GSS (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:

              7.

              rs1490500302 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                20:34940744 (GRCh38)
                20:33528547 (GRCh37)
                Canonical SPDI:
                NC_000020.11:34940743:A:G
                Gene:
                GSS (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.000671/3 (ALFA)
                G=0.000014/2 (GnomAD)
                G=0.00067/3 (Estonian)
                HGVS:

                8.

                rs1490481520 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  20:34946047 (GRCh38)
                  20:33533850 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:34946046:G:A
                  Gene:
                  GSS (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000011/3 (TOPMED)
                  HGVS:

                  9.

                  rs1490314820 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    20:34945404 (GRCh38)
                    20:33533207 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:34945403:G:A
                    Gene:
                    GSS (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:

                    10.

                    rs1490203376 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      20:34937859 (GRCh38)
                      20:33525662 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:34937858:A:C
                      Gene:
                      GSS (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1490115127 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        20:34935706 (GRCh38)
                        20:33523509 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:34935705:C:G
                        Gene:
                        GSS (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:

                        12.

                        rs1490078874 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          20:34953899 (GRCh38)
                          20:33541702 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:34953898:G:A,NC_000020.11:34953898:G:C
                          Gene:
                          GSS (Varview), MYH7B (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,intron_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1490065690 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            20:34956986 (GRCh38)
                            20:33544789 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:34956985:G:C
                            Gene:
                            GSS (Varview), MYH7B (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.000224/1 (ALFA)
                            C=0.000007/1 (GnomAD)
                            C=0.000223/1 (Estonian)
                            HGVS:

                            14.

                            rs1489940852 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              20:34952483 (GRCh38)
                              20:33540286 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:34952482:G:A
                              Gene:
                              GSS (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000008/2 (TOPMED)
                              HGVS:

                              15.

                              rs1489914786 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                20:34953566 (GRCh38)
                                20:33541369 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:34953565:T:C
                                Gene:
                                GSS (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                C=0.000008/2 (TOPMED)
                                HGVS:

                                16.

                                rs1489671002 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  20:34944260 (GRCh38)
                                  20:33532063 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:34944259:A:C
                                  Gene:
                                  GSS (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000011/3 (TOPMED)
                                  C=0.000014/2 (GnomAD)
                                  C=0.000156/1 (1000Genomes)
                                  C=0.000342/1 (KOREAN)
                                  C=0.000546/1 (Korea1K)
                                  C=0.004353/73 (TOMMO)
                                  HGVS:

                                  17.

                                  rs1489634007 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    20:34936381 (GRCh38)
                                    20:33524184 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:34936380:A:G
                                    Gene:
                                    GSS (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000008/2 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1489552425 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      C>- [Show Flanks]
                                      Chromosome:
                                      20:34929742 (GRCh38)
                                      20:33517545 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:34929741:C:
                                      Gene:
                                      GSS (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      -=0./0 (ALFA)
                                      -=0.000008/2 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1489531686 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        20:34930801 (GRCh38)
                                        20:33518604 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:34930800:T:C
                                        Gene:
                                        GSS (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000014/2 (GnomAD)
                                        C=0.000023/6 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1489455081 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          20:34949858 (GRCh38)
                                          20:33537661 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:34949857:A:G
                                          Gene:
                                          GSS (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)
                                          G=0.000035/1 (TOMMO)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...