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Items: 1 to 20 of 1937

1.

rs1491536706 has merged into rs10591328 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
    Chromosome:
    1:115926182 (GRCh38)
    1:116468803 (GRCh37)
    Canonical SPDI:
    NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    LOC101928977 (Varview), LINC01649 (Varview)
    Functional Consequence:
    downstream_transcript_variant,500B_downstream_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTTTT=0./0 (ALFA)
    TTT=0.0605/303 (1000Genomes)
    HGVS:
    2.

    rs1491452650 has merged into rs56808836 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT [Show Flanks]
      Chromosome:
      1:115921411 (GRCh38)
      1:116464032 (GRCh37)
      Canonical SPDI:
      NC_000001.11:115921401:TATATATATATAT:TATATATAT,NC_000001.11:115921401:TATATATATATAT:TATATATATAT,NC_000001.11:115921401:TATATATATATAT:TATATATATATATAT,NC_000001.11:115921401:TATATATATATAT:TATATATATATATATAT,NC_000001.11:115921401:TATATATATATAT:TATATATATATATATATAT
      Gene:
      LINC01649 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TATATATATAT=0./0 (ALFA)
      TA=0.05541/247 (Estonian)
      HGVS:
      3.

      rs1491434323 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AT>- [Show Flanks]
        Chromosome:
        1:115926168 (GRCh38)
        1:116468789 (GRCh37)
        Canonical SPDI:
        NC_000001.11:115926167:AT:
        Gene:
        LOC101928977 (Varview), LINC01649 (Varview)
        Functional Consequence:
        intron_variant,downstream_transcript_variant,500B_downstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        HGVS:
        4.

        rs1491225822 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->G [Show Flanks]
          Chromosome:
          1:115917800 (GRCh38)
          1:116460422 (GRCh37)
          Canonical SPDI:
          NC_000001.11:115917800::G
          Gene:
          LINC01649 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.00008/1 (GnomAD)
          HGVS:
          5.

          rs1491190256 has merged into rs71096850 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            1:115917809 (GRCh38)
            1:116460430 (GRCh37)
            Canonical SPDI:
            NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:115917799:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            LINC01649 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAA=0./0 (ALFA)
            -=0.175/7 (GENOME_DK)
            AAA=0.3736/1871 (1000Genomes)
            HGVS:
            NC_000001.11:g.115917809_115917824del, NC_000001.11:g.115917810_115917824del, NC_000001.11:g.115917812_115917824del, NC_000001.11:g.115917813_115917824del, NC_000001.11:g.115917814_115917824del, NC_000001.11:g.115917815_115917824del, NC_000001.11:g.115917816_115917824del, NC_000001.11:g.115917817_115917824del, NC_000001.11:g.115917818_115917824del, NC_000001.11:g.115917819_115917824del, NC_000001.11:g.115917820_115917824del, NC_000001.11:g.115917821_115917824del, NC_000001.11:g.115917822_115917824del, NC_000001.11:g.115917823_115917824del, NC_000001.11:g.115917824del, NC_000001.11:g.115917824dup, NC_000001.11:g.115917823_115917824dup, NC_000001.11:g.115917822_115917824dup, NC_000001.11:g.115917821_115917824dup, NC_000001.11:g.115917820_115917824dup, NC_000001.11:g.115917819_115917824dup, NC_000001.11:g.115917818_115917824dup, NC_000001.11:g.115917817_115917824dup, NC_000001.11:g.115917815_115917824dup, NC_000001.11:g.115917813_115917824dup, NC_000001.11:g.115917808_115917824dup, NC_000001.11:g.115917804_115917824dup, NC_000001.11:g.115917824_115917825insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.115917800_115917824A[30]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.116460430_116460445del, NC_000001.10:g.116460431_116460445del, NC_000001.10:g.116460433_116460445del, NC_000001.10:g.116460434_116460445del, NC_000001.10:g.116460435_116460445del, NC_000001.10:g.116460436_116460445del, NC_000001.10:g.116460437_116460445del, NC_000001.10:g.116460438_116460445del, NC_000001.10:g.116460439_116460445del, NC_000001.10:g.116460440_116460445del, NC_000001.10:g.116460441_116460445del, NC_000001.10:g.116460442_116460445del, NC_000001.10:g.116460443_116460445del, NC_000001.10:g.116460444_116460445del, NC_000001.10:g.116460445del, NC_000001.10:g.116460445dup, NC_000001.10:g.116460444_116460445dup, NC_000001.10:g.116460443_116460445dup, NC_000001.10:g.116460442_116460445dup, NC_000001.10:g.116460441_116460445dup, NC_000001.10:g.116460440_116460445dup, NC_000001.10:g.116460439_116460445dup, NC_000001.10:g.116460438_116460445dup, NC_000001.10:g.116460436_116460445dup, NC_000001.10:g.116460434_116460445dup, NC_000001.10:g.116460429_116460445dup, NC_000001.10:g.116460425_116460445dup, NC_000001.10:g.116460445_116460446insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.116460421_116460445A[30]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
            6.

            rs1490491784 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              1:115920769 (GRCh38)
              1:116463390 (GRCh37)
              Canonical SPDI:
              NC_000001.11:115920768:G:T
              Gene:
              LINC01649 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1489929318 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                1:115920286 (GRCh38)
                1:116462907 (GRCh37)
                Canonical SPDI:
                NC_000001.11:115920285:A:C
                Gene:
                LINC01649 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000671/3 (ALFA)
                C=0.000014/2 (GnomAD)
                C=0.00067/3 (Estonian)
                HGVS:
                8.

                rs1489550571 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  1:115919222 (GRCh38)
                  1:116461843 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:115919221:A:C
                  Gene:
                  LINC01649 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1489047720 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    1:115926224 (GRCh38)
                    1:116468845 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:115926223:G:A
                    Gene:
                    LOC101928977 (Varview), LINC01649 (Varview)
                    Functional Consequence:
                    intron_variant,downstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1488024504 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A,C [Show Flanks]
                      Chromosome:
                      1:115922832 (GRCh38)
                      1:116465453 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:115922831:T:A,NC_000001.11:115922831:T:C
                      Gene:
                      LOC101928977 (Varview), LINC01649 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      C=0.0011/2 (Korea1K)
                      HGVS:
                      11.

                      rs1486954602 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        1:115917470 (GRCh38)
                        1:116460091 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:115917469:G:A,NC_000001.11:115917469:G:T
                        Gene:
                        LINC01649 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1485779593 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          1:115925390 (GRCh38)
                          1:116468011 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:115925389:A:G
                          Gene:
                          LOC101928977 (Varview), LINC01649 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000015/4 (TOPMED)
                          HGVS:
                          13.

                          rs1485715633 has merged into rs10591328 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
                            Chromosome:
                            1:115926182 (GRCh38)
                            1:116468803 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:115926168:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
                            Gene:
                            LOC101928977 (Varview), LINC01649 (Varview)
                            Functional Consequence:
                            downstream_transcript_variant,500B_downstream_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TTTTTTTTTTTTTTTT=0./0 (ALFA)
                            TTT=0.0605/303 (1000Genomes)
                            HGVS:
                            14.

                            rs1485451802 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:115925870 (GRCh38)
                              1:116468491 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:115925869:G:A
                              Gene:
                              LOC101928977 (Varview), LINC01649 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000021/3 (GnomAD)
                              HGVS:
                              15.

                              rs1484660682 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:115917525 (GRCh38)
                                1:116460146 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:115917524:G:A
                                Gene:
                                LINC01649 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1484492038 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  C>- [Show Flanks]
                                  Chromosome:
                                  1:115926081 (GRCh38)
                                  1:116468702 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:115926080:CCC:CC
                                  Gene:
                                  LOC101928977 (Varview), LINC01649 (Varview)
                                  Functional Consequence:
                                  intron_variant,downstream_transcript_variant,500B_downstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  CC=0.000066/1 (ALFA)
                                  -=0.000007/1 (GnomAD)
                                  -=0.000223/1 (Estonian)
                                  HGVS:
                                  17.

                                  rs1483944218 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    1:115922697 (GRCh38)
                                    1:116465318 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:115922696:A:G
                                    Gene:
                                    LOC101928977 (Varview), LINC01649 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1482852832 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      1:115923483 (GRCh38)
                                      1:116466104 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:115923482:G:A
                                      Gene:
                                      LOC101928977 (Varview), LINC01649 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000021/3 (GnomAD)
                                      A=0.000038/10 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1482730070 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        1:115920459 (GRCh38)
                                        1:116463080 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:115920458:G:A
                                        Gene:
                                        LINC01649 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.00003/8 (TOPMED)
                                        A=0.00005/7 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1482513101 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          1:115924190 (GRCh38)
                                          1:116466811 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:115924189:G:A
                                          Gene:
                                          LOC101928977 (Varview), LINC01649 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          A=0.000272/72 (TOPMED)
                                          A=0.0003/42 (GnomAD)
                                          HGVS:

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