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 1000

1.

rs1491514285 has merged into rs111717563 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TA>- [Show Flanks]
    Chromosome:
    6:70526766 (GRCh38)
    6:71236469 (GRCh37)
    Canonical SPDI:
    NC_000006.12:70526764:ATA:A
    Gene:
    FAM135A (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.00422/50 (ALFA)
    -=0.00812/673 (GnomAD)
    -=0.10327/398 (ALSPAC)
    -=0.10787/400 (TWINSUK)
    HGVS:

    2.

    rs1491470042 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      6:70419418 (GRCh38)
      6:71129121 (GRCh37)
      Canonical SPDI:
      NC_000006.12:70419417:CA:
      Gene:
      FAM135A (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:

      3.

      rs1491456618 has merged into rs3029152 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAAAAAAA [Show Flanks]
        Chromosome:
        6:70419429 (GRCh38)
        6:71129132 (GRCh37)
        Canonical SPDI:
        NC_000006.12:70419418:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:70419418:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:70419418:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:70419418:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:70419418:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:70419418:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
        Gene:
        FAM135A (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAAAA=0./0 (ALFA)
        -=0.1783/687 (ALSPAC)
        HGVS:

        4.

        rs1491446777 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->C [Show Flanks]
          Chromosome:
          6:70464862 (GRCh38)
          6:71174566 (GRCh37)
          Canonical SPDI:
          NC_000006.12:70464862:C:CC
          Gene:
          FAM135A (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          CC=0./0 (ALFA)
          C=0.000065/7 (GnomAD)
          HGVS:

          5.

          rs1491426610 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->C [Show Flanks]
            Chromosome:
            6:70552464 (GRCh38)
            6:71262168 (GRCh37)
            Canonical SPDI:
            NC_000006.12:70552464:C:CC
            Gene:
            FAM135A (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            CC=0./0 (ALFA)
            C=0.000018/2 (GnomAD)
            HGVS:

            6.

            rs1491409552 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->GTAT,GTATAT [Show Flanks]
              Chromosome:
              6:70435081 (GRCh38)
              6:71144785 (GRCh37)
              Canonical SPDI:
              NC_000006.12:70435081:T:TGTAT,NC_000006.12:70435081:T:TGTATAT
              Gene:
              FAM135A (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TGTATAT=0./0 (ALFA)
              HGVS:

              7.

              rs1491382108 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->A,ATA,ATATA,ATATATA [Show Flanks]
                Chromosome:
                6:70435110 (GRCh38)
                6:71144814 (GRCh37)
                Canonical SPDI:
                NC_000006.12:70435110::A,NC_000006.12:70435110::ATA,NC_000006.12:70435110::ATATA,NC_000006.12:70435110::ATATATA
                Gene:
                FAM135A (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                ATA=0./0 (ALFA)
                A=0.00021/4 (TOMMO)
                HGVS:

                8.

                rs1491274514 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->GT [Show Flanks]
                  Chromosome:
                  6:70442240 (GRCh38)
                  6:71151944 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:70442240:T:TGT
                  Gene:
                  FAM135A (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TGT=0./0 (ALFA)
                  TG=0.000126/16 (GnomAD)
                  HGVS:

                  9.

                  rs1491264623 has merged into rs1213346179 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
                    Chromosome:
                    6:70435118 (GRCh38)
                    6:71144821 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:70435109:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000006.12:70435109:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:70435109:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:70435109:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:70435109:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:70435109:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:70435109:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:70435109:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:70435109:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:70435109:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:70435109:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
                    Gene:
                    FAM135A (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTTTTTT=0./0 (ALFA)
                    HGVS:
                    NC_000006.12:g.70435118_70435124del, NC_000006.12:g.70435119_70435124del, NC_000006.12:g.70435120_70435124del, NC_000006.12:g.70435121_70435124del, NC_000006.12:g.70435122_70435124del, NC_000006.12:g.70435123_70435124del, NC_000006.12:g.70435124del, NC_000006.12:g.70435124dup, NC_000006.12:g.70435123_70435124dup, NC_000006.12:g.70435122_70435124dup, NC_000006.12:g.70435120_70435124dup, NC_000006.11:g.71144821_71144827del, NC_000006.11:g.71144822_71144827del, NC_000006.11:g.71144823_71144827del, NC_000006.11:g.71144824_71144827del, NC_000006.11:g.71144825_71144827del, NC_000006.11:g.71144826_71144827del, NC_000006.11:g.71144827del, NC_000006.11:g.71144827dup, NC_000006.11:g.71144826_71144827dup, NC_000006.11:g.71144825_71144827dup, NC_000006.11:g.71144823_71144827dup, NG_054903.1:g.26715_26721del, NG_054903.1:g.26716_26721del, NG_054903.1:g.26717_26721del, NG_054903.1:g.26718_26721del, NG_054903.1:g.26719_26721del, NG_054903.1:g.26720_26721del, NG_054903.1:g.26721del, NG_054903.1:g.26721dup, NG_054903.1:g.26720_26721dup, NG_054903.1:g.26719_26721dup, NG_054903.1:g.26717_26721dup

                    10.

                    rs1491178158 has merged into rs1264461872 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                      Chromosome:
                      6:70442252 (GRCh38)
                      6:71151955 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:70442239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:70442239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:70442239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:70442239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:70442239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:70442239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:70442239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:70442239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:70442239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70442239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70442239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70442239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70442239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70442239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                      Gene:
                      FAM135A (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTTTTTTTTTTT=0./0 (ALFA)
                      -=0.5/4 (KOREAN)
                      HGVS:
                      NC_000006.12:g.70442252_70442257del, NC_000006.12:g.70442253_70442257del, NC_000006.12:g.70442254_70442257del, NC_000006.12:g.70442255_70442257del, NC_000006.12:g.70442256_70442257del, NC_000006.12:g.70442257del, NC_000006.12:g.70442257dup, NC_000006.12:g.70442256_70442257dup, NC_000006.12:g.70442255_70442257dup, NC_000006.12:g.70442254_70442257dup, NC_000006.12:g.70442253_70442257dup, NC_000006.12:g.70442243_70442257dup, NC_000006.12:g.70442257_70442258insTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.70442257_70442258insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.71151955_71151960del, NC_000006.11:g.71151956_71151960del, NC_000006.11:g.71151957_71151960del, NC_000006.11:g.71151958_71151960del, NC_000006.11:g.71151959_71151960del, NC_000006.11:g.71151960del, NC_000006.11:g.71151960dup, NC_000006.11:g.71151959_71151960dup, NC_000006.11:g.71151958_71151960dup, NC_000006.11:g.71151957_71151960dup, NC_000006.11:g.71151956_71151960dup, NC_000006.11:g.71151946_71151960dup, NC_000006.11:g.71151960_71151961insTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.71151960_71151961insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054903.1:g.33849_33854del, NG_054903.1:g.33850_33854del, NG_054903.1:g.33851_33854del, NG_054903.1:g.33852_33854del, NG_054903.1:g.33853_33854del, NG_054903.1:g.33854del, NG_054903.1:g.33854dup, NG_054903.1:g.33853_33854dup, NG_054903.1:g.33852_33854dup, NG_054903.1:g.33851_33854dup, NG_054903.1:g.33850_33854dup, NG_054903.1:g.33840_33854dup, NG_054903.1:g.33854_33855insTTTTTTTTTTTTTTTTTTTT, NG_054903.1:g.33854_33855insTTTTTTTTTTTTTTTTTTTTTTTTT

                      11.

                      rs1491168673 has merged into rs780821553 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTT [Show Flanks]
                        Chromosome:
                        6:70460861 (GRCh38)
                        6:71170564 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:70460848:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:70460848:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:70460848:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:70460848:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:70460848:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:70460848:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:70460848:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:70460848:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:70460848:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
                        Gene:
                        FAM135A (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TTTTTTTTTTTTT=0./0 (ALFA)
                        T=0.1/4 (GENOME_DK)
                        HGVS:
                        NC_000006.12:g.70460861_70460864del, NC_000006.12:g.70460862_70460864del, NC_000006.12:g.70460863_70460864del, NC_000006.12:g.70460864del, NC_000006.12:g.70460864dup, NC_000006.12:g.70460863_70460864dup, NC_000006.12:g.70460862_70460864dup, NC_000006.12:g.70460861_70460864dup, NC_000006.12:g.70460857_70460864dup, NC_000006.11:g.71170564_71170567del, NC_000006.11:g.71170565_71170567del, NC_000006.11:g.71170566_71170567del, NC_000006.11:g.71170567del, NC_000006.11:g.71170567dup, NC_000006.11:g.71170566_71170567dup, NC_000006.11:g.71170565_71170567dup, NC_000006.11:g.71170564_71170567dup, NC_000006.11:g.71170560_71170567dup, NG_054903.1:g.52458_52461del, NG_054903.1:g.52459_52461del, NG_054903.1:g.52460_52461del, NG_054903.1:g.52461del, NG_054903.1:g.52461dup, NG_054903.1:g.52460_52461dup, NG_054903.1:g.52459_52461dup, NG_054903.1:g.52458_52461dup, NG_054903.1:g.52454_52461dup

                        12.

                        rs1491121282 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          CA>- [Show Flanks]
                          Chromosome:
                          6:70494053 (GRCh38)
                          6:71203756 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:70494052:CA:
                          Gene:
                          FAM135A (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0.02908/345 (ALFA)
                          -=0.00074/21 (TOMMO)
                          -=0.00115/2 (Korea1K)
                          HGVS:

                          13.

                          rs1491101337 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            TC>- [Show Flanks]
                            Chromosome:
                            6:70464862 (GRCh38)
                            6:71174565 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:70464861:TC:
                            Gene:
                            FAM135A (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0./0 (ALFA)
                            -=0.000046/5 (GnomAD)
                            HGVS:

                            14.

                            rs1491052865 has merged into rs368818336 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
                              Chromosome:
                              6:70492670 (GRCh38)
                              6:71202373 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:70492656:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:70492656:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:70492656:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:70492656:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:70492656:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:70492656:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
                              Gene:
                              FAM135A (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AAAAAAAAAAAAAA=0./0 (ALFA)
                              A=0.2236/1120 (1000Genomes)
                              A=0.325/13 (GENOME_DK)
                              HGVS:

                              15.

                              rs1491049651 has merged into rs34753260 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
                                Chromosome:
                                6:70544118 (GRCh38)
                                6:71253821 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:70544108:AAAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:70544108:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:70544108:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:70544108:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:70544108:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:70544108:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
                                Gene:
                                FAM135A (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAAAAAAAAAA=0./0 (ALFA)
                                -=0.000026/7 (TOPMED)
                                -=0.006196/26 (1000Genomes)
                                A=0.212375/127 (NorthernSweden)
                                HGVS:

                                16.

                                rs1491035823 has merged into rs140142745 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  GG>-,G,GGG,GGGG [Show Flanks]
                                  Chromosome:
                                  6:70555735 (GRCh38)
                                  6:71265438 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:70555728:GGGGGGGG:GGGGGG,NC_000006.12:70555728:GGGGGGGG:GGGGGGG,NC_000006.12:70555728:GGGGGGGG:GGGGGGGGG,NC_000006.12:70555728:GGGGGGGG:GGGGGGGGGG
                                  Gene:
                                  FAM135A (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  GGGGGGGGG=0./0 (ALFA)
                                  -=0.00014/2 (TOMMO)
                                  -=0.00045/2 (Estonian)
                                  G=0.00467/1 (Vietnamese)
                                  -=0.02421/120 (1000Genomes)
                                  HGVS:

                                  17.

                                  rs1490987774 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    6:70418773 (GRCh38)
                                    6:71128476 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:70418772:A:G
                                    Gene:
                                    FAM135A (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0.000071/1 (ALFA)
                                    G=0.000015/4 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1490949970 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      6:70528315 (GRCh38)
                                      6:71238018 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:70528314:T:A
                                      Gene:
                                      FAM135A (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000006.12:g.70528315T>A, NC_000006.11:g.71238018T>A, NG_054903.1:g.119912T>A, NM_020819.5:c.2999T>A, NM_020819.4:c.2999T>A, NM_001330999.3:c.3716T>A, NM_001330999.2:c.3716T>A, NM_001330999.1:c.3716T>A, NM_001162529.3:c.3638T>A, NM_001162529.2:c.3638T>A, NM_001162529.1:c.3638T>A, NM_001330996.3:c.3716T>A, NM_001330996.2:c.3716T>A, NM_001330996.1:c.3716T>A, NM_001331004.3:c.2363T>A, NM_001331004.2:c.2363T>A, NM_001331004.1:c.2363T>A, NM_001331005.3:c.3539T>A, NM_001331005.2:c.3539T>A, NM_001331005.1:c.3539T>A, NM_001331003.3:c.3128T>A, NM_001331003.2:c.3128T>A, NM_001331003.1:c.3128T>A, NM_001330998.3:c.3128T>A, NM_001330998.2:c.3128T>A, NM_001330998.1:c.3128T>A, NM_001331002.3:c.3050T>A, NM_001331002.2:c.3050T>A, NM_001331002.1:c.3050T>A, NM_001105531.3:c.3050T>A, NM_001105531.2:c.3050T>A, NM_001331001.3:c.3050T>A, NM_001331001.2:c.3050T>A, NM_001331001.1:c.3050T>A, NM_001330997.3:c.3050T>A, NM_001330997.2:c.3050T>A, NM_001330997.1:c.3050T>A, NM_001331000.3:c.2951T>A, NM_001331000.2:c.2951T>A, NM_001331000.1:c.2951T>A, NM_001331006.3:c.2456T>A, NM_001331006.2:c.2456T>A, NM_001331006.1:c.2456T>A, NM_001330995.3:c.2378T>A, NM_001330995.2:c.2378T>A, NM_001330995.1:c.2378T>A, NM_001351607.2:c.3638T>A, NM_001351607.1:c.3638T>A, NM_001351602.2:c.3638T>A, NM_001351602.1:c.3638T>A, NM_001351599.2:c.3716T>A, NM_001351599.1:c.3716T>A, NM_001351600.2:c.3638T>A, NM_001351600.1:c.3638T>A, NM_001351608.2:c.2792T>A, NM_001351608.1:c.2792T>A, NM_001351609.2:c.2198T>A, NM_001351609.1:c.2198T>A, XM_011535995.4:c.3716T>A, XM_011535995.3:c.3716T>A, XM_011535995.2:c.3716T>A, XM_011535995.1:c.3716T>A, XM_011535994.3:c.3716T>A, XM_011535994.2:c.3716T>A, XM_011535994.1:c.3716T>A, XM_011535996.3:c.3716T>A, XM_011535996.2:c.3716T>A, XM_011535996.1:c.3716T>A, XM_011535997.3:c.3617T>A, XM_011535997.2:c.3617T>A, XM_011535997.1:c.3617T>A, XM_017011127.2:c.3638T>A, XM_017011127.1:c.3638T>A, XM_005248749.2:c.3044T>A, XM_005248749.1:c.3044T>A, XM_047419158.1:c.3716T>A, XM_047419165.1:c.3128T>A, XM_047419159.1:c.3638T>A, XM_047419160.1:c.3638T>A, XM_047419169.1:c.2456T>A, XM_047419175.1:c.2378T>A, XM_047419162.1:c.3128T>A, XM_047419163.1:c.3128T>A, XM_047419167.1:c.3050T>A, XM_047419166.1:c.3050T>A, XM_047419161.1:c.3128T>A, XM_047419164.1:c.3128T>A, XM_047419168.1:c.2966T>A, XM_047419171.1:c.2456T>A, XM_047419173.1:c.2456T>A, XM_047419172.1:c.2456T>A, XM_047419180.1:c.2378T>A, XM_047419176.1:c.2378T>A, XM_047419179.1:c.2378T>A, XM_047419170.1:c.2456T>A, XM_047419174.1:c.2456T>A, XM_047419177.1:c.2378T>A, XM_047419178.1:c.2378T>A, NP_065870.3:p.Leu1000Gln, NP_001317928.1:p.Leu1239Gln, NP_001156001.1:p.Leu1213Gln, NP_001317925.1:p.Leu1239Gln, NP_001317933.1:p.Leu788Gln, NP_001317934.1:p.Leu1180Gln, NP_001317932.1:p.Leu1043Gln, NP_001317927.1:p.Leu1043Gln, NP_001317931.1:p.Leu1017Gln, NP_001099001.1:p.Leu1017Gln, NP_001317930.1:p.Leu1017Gln, NP_001317926.1:p.Leu1017Gln, NP_001317929.1:p.Leu984Gln, NP_001317935.1:p.Leu819Gln, NP_001317924.1:p.Leu793Gln, NP_001338536.1:p.Leu1213Gln, NP_001338531.1:p.Leu1213Gln, NP_001338528.1:p.Leu1239Gln, NP_001338529.1:p.Leu1213Gln, NP_001338537.1:p.Leu931Gln, NP_001338538.1:p.Leu733Gln, XP_011534297.1:p.Leu1239Gln, XP_011534296.1:p.Leu1239Gln, XP_011534298.1:p.Leu1239Gln, XP_011534299.1:p.Leu1206Gln, XP_016866616.1:p.Leu1213Gln, XP_005248806.1:p.Leu1015Gln, XP_047275114.1:p.Leu1239Gln, XP_047275121.1:p.Leu1043Gln, XP_047275115.1:p.Leu1213Gln, XP_047275116.1:p.Leu1213Gln, XP_047275125.1:p.Leu819Gln, XP_047275131.1:p.Leu793Gln, XP_047275118.1:p.Leu1043Gln, XP_047275119.1:p.Leu1043Gln, XP_047275123.1:p.Leu1017Gln, XP_047275122.1:p.Leu1017Gln, XP_047275117.1:p.Leu1043Gln, XP_047275120.1:p.Leu1043Gln, XP_047275124.1:p.Leu989Gln, XP_047275127.1:p.Leu819Gln, XP_047275129.1:p.Leu819Gln, XP_047275128.1:p.Leu819Gln, XP_047275136.1:p.Leu793Gln, XP_047275132.1:p.Leu793Gln, XP_047275135.1:p.Leu793Gln, XP_047275126.1:p.Leu819Gln, XP_047275130.1:p.Leu819Gln, XP_047275133.1:p.Leu793Gln, XP_047275134.1:p.Leu793Gln

                                      19.

                                      rs1490943557 [Homo sapiens]
                                        Variant type:
                                        SNV:
                                        Alleles:
                                        ->TT
                                        Chromosome:
                                        no mapping
                                        Canonical SPDI:

                                        20.

                                        rs1490924785 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          6:70526009 (GRCh38)
                                          6:71235712 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:70526008:C:T
                                          Gene:
                                          FAM135A (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (GnomAD_exomes)
                                          T=0.000014/2 (GnomAD)
                                          T=0.000026/7 (TOPMED)
                                          HGVS:
                                          NC_000006.12:g.70526009C>T, NC_000006.11:g.71235712C>T, NG_054903.1:g.117606C>T, NM_020819.5:c.2286C>T, NM_020819.4:c.2286C>T, NM_001330999.3:c.3003C>T, NM_001330999.2:c.3003C>T, NM_001330999.1:c.3003C>T, NM_001162529.3:c.2925C>T, NM_001162529.2:c.2925C>T, NM_001162529.1:c.2925C>T, NM_001330996.3:c.3003C>T, NM_001330996.2:c.3003C>T, NM_001330996.1:c.3003C>T, NM_001331004.3:c.1650C>T, NM_001331004.2:c.1650C>T, NM_001331004.1:c.1650C>T, NM_001331005.3:c.2826C>T, NM_001331005.2:c.2826C>T, NM_001331005.1:c.2826C>T, NM_001331003.3:c.2415C>T, NM_001331003.2:c.2415C>T, NM_001331003.1:c.2415C>T, NM_001330998.3:c.2415C>T, NM_001330998.2:c.2415C>T, NM_001330998.1:c.2415C>T, NM_001331002.3:c.2337C>T, NM_001331002.2:c.2337C>T, NM_001331002.1:c.2337C>T, NM_001105531.3:c.2337C>T, NM_001105531.2:c.2337C>T, NM_001331001.3:c.2337C>T, NM_001331001.2:c.2337C>T, NM_001331001.1:c.2337C>T, NM_001330997.3:c.2337C>T, NM_001330997.2:c.2337C>T, NM_001330997.1:c.2337C>T, NM_001331000.3:c.2238C>T, NM_001331000.2:c.2238C>T, NM_001331000.1:c.2238C>T, NM_001331006.3:c.1743C>T, NM_001331006.2:c.1743C>T, NM_001331006.1:c.1743C>T, NM_001330995.3:c.1665C>T, NM_001330995.2:c.1665C>T, NM_001330995.1:c.1665C>T, NM_001351607.2:c.2925C>T, NM_001351607.1:c.2925C>T, NM_001351602.2:c.2925C>T, NM_001351602.1:c.2925C>T, NM_001351599.2:c.3003C>T, NM_001351599.1:c.3003C>T, NM_001351600.2:c.2925C>T, NM_001351600.1:c.2925C>T, NM_001351608.2:c.2079C>T, NM_001351608.1:c.2079C>T, NM_001351609.2:c.1485C>T, NM_001351609.1:c.1485C>T, XM_011535995.4:c.3003C>T, XM_011535995.3:c.3003C>T, XM_011535995.2:c.3003C>T, XM_011535995.1:c.3003C>T, XM_011535994.3:c.3003C>T, XM_011535994.2:c.3003C>T, XM_011535994.1:c.3003C>T, XM_011535996.3:c.3003C>T, XM_011535996.2:c.3003C>T, XM_011535996.1:c.3003C>T, XM_011535997.3:c.2904C>T, XM_011535997.2:c.2904C>T, XM_011535997.1:c.2904C>T, XM_017011127.2:c.2925C>T, XM_017011127.1:c.2925C>T, XM_005248749.2:c.2331C>T, XM_005248749.1:c.2331C>T, XM_047419158.1:c.3003C>T, XM_047419165.1:c.2415C>T, XM_047419159.1:c.2925C>T, XM_047419160.1:c.2925C>T, XM_047419169.1:c.1743C>T, XM_047419175.1:c.1665C>T, XM_047419162.1:c.2415C>T, XM_047419163.1:c.2415C>T, XM_047419167.1:c.2337C>T, XM_047419166.1:c.2337C>T, XM_047419161.1:c.2415C>T, XM_047419164.1:c.2415C>T, XM_047419168.1:c.2253C>T, XM_047419171.1:c.1743C>T, XM_047419173.1:c.1743C>T, XM_047419172.1:c.1743C>T, XM_047419180.1:c.1665C>T, XM_047419176.1:c.1665C>T, XM_047419179.1:c.1665C>T, XM_047419170.1:c.1743C>T, XM_047419174.1:c.1743C>T, XM_047419177.1:c.1665C>T, XM_047419178.1:c.1665C>T

                                          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...