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Items: 1 to 20 of 5046

2.

rs1491520381 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AA>- [Show Flanks]
    Chromosome:
    19:54358386 (GRCh38)
    19:54869995 (GRCh37)
    Canonical SPDI:
    NC_000019.10:54358385:AA:
    Gene:
    LAIR1 (Varview)
    Functional Consequence:
    intron_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    -=0.000625/4 (1000Genomes)
    -=0.001574/77 (GnomAD)
    HGVS:
    3.

    rs1491487387 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->T,TAATATATATAT,TAATATATATATATAATATATATAT,TAT,TC [Show Flanks]
      Chromosome:
      19:54358397 (GRCh38)
      19:54869986 (GRCh37)
      Canonical SPDI:
      NC_000019.10:54358397::T,NC_000019.10:54358397::TAATATATATAT,NC_000019.10:54358397::TAATATATATATATAATATATATAT,NC_000019.10:54358397::TAT,NC_000019.10:54358397::TC
      Gene:
      LAIR1 (Varview)
      Functional Consequence:
      intron_variant,3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TAATATATATAT=0./0 (ALFA)
      T=0.000061/8 (GnomAD)
      T=0.000071/2 (TOMMO)
      HGVS:
      NC_000019.10:g.54358397_54358398insT, NC_000019.10:g.54358397_54358398insTAATATATATAT, NC_000019.10:g.54358397_54358398insTAATATATATATATAATATATATAT, NC_000019.10:g.54358397_54358398insTAT, NC_000019.10:g.54358397_54358398insTC, NW_004166865.1:g.332764_332765insT, NW_004166865.1:g.332764_332765insTAATATATATAT, NW_004166865.1:g.332764_332765insTAATATATATATATAATATATATAT, NW_004166865.1:g.332764_332765insTAT, NW_004166865.1:g.332764_332765insTC, NW_003571061.2:g.340358dup, NW_003571061.2:g.340347_340358dup, NW_003571061.2:g.340339_340358TA[5]AT[5]TAATATATATATATAATATATATAT[1], NW_003571061.2:g.340356_340358dup, NW_003571061.2:g.340358_340359insTC, NW_003571055.2:g.339802dup, NW_003571055.2:g.339791_339802dup, NW_003571055.2:g.339783_339802TA[5]AT[5]TAATATATATATATAATATATATAT[1], NW_003571055.2:g.339800_339802dup, NW_003571055.2:g.339802_339803insTC, NT_187693.1:g.341119dup, NT_187693.1:g.341108_341119dup, NT_187693.1:g.341100_341119TA[5]AT[5]TAATATATATATATAATATATATAT[1], NT_187693.1:g.341117_341119dup, NT_187693.1:g.341119_341120insTC, NW_003571060.1:g.263046dup, NW_003571060.1:g.263035_263046dup, NW_003571060.1:g.263027_263046TA[5]AT[5]TAATATATATATATAATATATATAT[1], NW_003571060.1:g.263044_263046dup, NW_003571060.1:g.263046_263047insTC, NC_000019.9:g.54870005dup, NC_000019.9:g.54869994_54870005dup, NC_000019.9:g.54869986_54870005TA[5]AT[5]TAATATATATATATAATATATATAT[1], NC_000019.9:g.54870003_54870005dup, NC_000019.9:g.54870005_54870006insTC, XM_017026803.3:c.*73_*74insA, XM_017026803.3:c.*73_*74insATATATATATTA, XM_017026803.3:c.*73_*74insATATATATATTATATATATATATTA, XM_017026803.3:c.*73_*74insATA, XM_017026803.3:c.*73_*74insGA, NW_003571061.1:g.340357dup, NW_003571061.1:g.340346_340357dup, NW_003571061.1:g.340338_340357TA[5]AT[5]TAATATATATATATAATATATATAT[1], NW_003571061.1:g.340355_340357dup, NW_003571061.1:g.340357_340358insTC, NW_003571055.1:g.339801dup, NW_003571055.1:g.339790_339801dup, NW_003571055.1:g.339782_339801TA[5]AT[5]TAATATATATATATAATATATATAT[1], NW_003571055.1:g.339799_339801dup, NW_003571055.1:g.339801_339802insTC
      4.

      rs1491436031 has merged into rs148763400 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAA>-,A,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
        Chromosome:
        19:54353171 (GRCh38)
        19:54864784 (GRCh37)
        Canonical SPDI:
        NC_000019.10:54353161:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:54353161:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:54353161:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:54353161:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:54353161:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:54353161:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:54353161:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:54353161:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
        Gene:
        LAIR1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAAAAA=0./0 (ALFA)
        HGVS:
        NC_000019.10:g.54353171_54353176del, NC_000019.10:g.54353172_54353176del, NC_000019.10:g.54353175_54353176del, NC_000019.10:g.54353176del, NC_000019.10:g.54353176dup, NC_000019.10:g.54353175_54353176dup, NC_000019.10:g.54353174_54353176dup, NC_000019.10:g.54353173_54353176dup, NW_004166865.1:g.327538_327543del, NW_004166865.1:g.327539_327543del, NW_004166865.1:g.327542_327543del, NW_004166865.1:g.327543del, NW_004166865.1:g.327543dup, NW_004166865.1:g.327542_327543dup, NW_004166865.1:g.327541_327543dup, NW_004166865.1:g.327540_327543dup, NW_003571061.2:g.335128delinsAA, NW_003571061.2:g.335128_335132del, NW_003571061.2:g.335128_335131del, NW_003571061.2:g.335128del, NW_003571061.2:g.335128G>A, NW_003571061.2:g.335128delinsAAA, NW_003571061.2:g.335128delinsAAAA, NW_003571061.2:g.335128delinsAAAAA, NW_003571061.2:g.335128delinsAAAAAA, NW_003571055.2:g.334572delinsAA, NW_003571055.2:g.334572_334576del, NW_003571055.2:g.334572_334575del, NW_003571055.2:g.334572del, NW_003571055.2:g.334572G>A, NW_003571055.2:g.334572delinsAAA, NW_003571055.2:g.334572delinsAAAA, NW_003571055.2:g.334572delinsAAAAA, NW_003571055.2:g.334572delinsAAAAAA, NT_187693.1:g.335889delinsAA, NT_187693.1:g.335889_335893del, NT_187693.1:g.335889_335892del, NT_187693.1:g.335889del, NT_187693.1:g.335889G>A, NT_187693.1:g.335889delinsAAA, NT_187693.1:g.335889delinsAAAA, NT_187693.1:g.335889delinsAAAAA, NT_187693.1:g.335889delinsAAAAAA, NC_000019.9:g.54864775delinsAA, NC_000019.9:g.54864775_54864779del, NC_000019.9:g.54864775_54864778del, NC_000019.9:g.54864775del, NC_000019.9:g.54864775G>A, NC_000019.9:g.54864775delinsAAA, NC_000019.9:g.54864775delinsAAAA, NC_000019.9:g.54864775delinsAAAAA, NC_000019.9:g.54864775delinsAAAAAA, NM_002287.6:c.*2101_*2106del, NM_002287.6:c.*2102_*2106del, NM_002287.6:c.*2105_*2106del, NM_002287.6:c.*2106del, NM_002287.6:c.*2106dup, NM_002287.6:c.*2105_*2106dup, NM_002287.6:c.*2104_*2106dup, NM_002287.6:c.*2103_*2106dup, NM_001289027.3:c.*2101_*2106del, NM_001289027.3:c.*2102_*2106del, NM_001289027.3:c.*2105_*2106del, NM_001289027.3:c.*2106del, NM_001289027.3:c.*2106dup, NM_001289027.3:c.*2105_*2106dup, NM_001289027.3:c.*2104_*2106dup, NM_001289027.3:c.*2103_*2106dup, NM_001289025.3:c.*2101_*2106del, NM_001289025.3:c.*2102_*2106del, NM_001289025.3:c.*2105_*2106del, NM_001289025.3:c.*2106del, NM_001289025.3:c.*2106dup, NM_001289025.3:c.*2105_*2106dup, NM_001289025.3:c.*2104_*2106dup, NM_001289025.3:c.*2103_*2106dup, NM_001289023.3:c.*2101_*2106del, NM_001289023.3:c.*2102_*2106del, NM_001289023.3:c.*2105_*2106del, NM_001289023.3:c.*2106del, NM_001289023.3:c.*2106dup, NM_001289023.3:c.*2105_*2106dup, NM_001289023.3:c.*2104_*2106dup, NM_001289023.3:c.*2103_*2106dup, NR_110279.3:n.2998_3003del, NR_110279.3:n.2999_3003del, NR_110279.3:n.3002_3003del, NR_110279.3:n.3003del, NR_110279.3:n.3003dup, NR_110279.3:n.3002_3003dup, NR_110279.3:n.3001_3003dup, NR_110279.3:n.3000_3003dup, XM_047438812.1:c.*2101_*2106del, XM_047438812.1:c.*2102_*2106del, XM_047438812.1:c.*2105_*2106del, XM_047438812.1:c.*2106del, XM_047438812.1:c.*2106dup, XM_047438812.1:c.*2105_*2106dup, XM_047438812.1:c.*2104_*2106dup, XM_047438812.1:c.*2103_*2106dup, XM_047438811.1:c.*2101_*2106del, XM_047438811.1:c.*2102_*2106del, XM_047438811.1:c.*2105_*2106del, XM_047438811.1:c.*2106del, XM_047438811.1:c.*2106dup, XM_047438811.1:c.*2105_*2106dup, XM_047438811.1:c.*2104_*2106dup, XM_047438811.1:c.*2103_*2106dup, NM_001289026.3:c.*2101_*2106del, NM_001289026.3:c.*2102_*2106del, NM_001289026.3:c.*2105_*2106del, NM_001289026.3:c.*2106del, NM_001289026.3:c.*2106dup, NM_001289026.3:c.*2105_*2106dup, NM_001289026.3:c.*2104_*2106dup, NM_001289026.3:c.*2103_*2106dup, NM_021706.5:c.*2101_*2106del, NM_021706.5:c.*2102_*2106del, NM_021706.5:c.*2105_*2106del, NM_021706.5:c.*2106del, NM_021706.5:c.*2106dup, NM_021706.5:c.*2105_*2106dup, NM_021706.5:c.*2104_*2106dup, NM_021706.5:c.*2103_*2106dup, NR_110280.3:n.3333_3338del, NR_110280.3:n.3334_3338del, NR_110280.3:n.3337_3338del, NR_110280.3:n.3338del, NR_110280.3:n.3338dup, NR_110280.3:n.3337_3338dup, NR_110280.3:n.3336_3338dup, NR_110280.3:n.3335_3338dup, XM_047438810.1:c.*2101_*2106del, XM_047438810.1:c.*2102_*2106del, XM_047438810.1:c.*2105_*2106del, XM_047438810.1:c.*2106del, XM_047438810.1:c.*2106dup, XM_047438810.1:c.*2105_*2106dup, XM_047438810.1:c.*2104_*2106dup, XM_047438810.1:c.*2103_*2106dup, NW_003571061.1:g.335127delinsAA, NW_003571061.1:g.335127_335131del, NW_003571061.1:g.335127_335130del, NW_003571061.1:g.335127del, NW_003571061.1:g.335127G>A, NW_003571061.1:g.335127delinsAAA, NW_003571061.1:g.335127delinsAAAA, NW_003571061.1:g.335127delinsAAAAA, NW_003571061.1:g.335127delinsAAAAAA, NW_003571055.1:g.334571delinsAA, NW_003571055.1:g.334571_334575del, NW_003571055.1:g.334571_334574del, NW_003571055.1:g.334571del, NW_003571055.1:g.334571G>A, NW_003571055.1:g.334571delinsAAA, NW_003571055.1:g.334571delinsAAAA, NW_003571055.1:g.334571delinsAAAAA, NW_003571055.1:g.334571delinsAAAAAA
        5.

        rs1491427001 has merged into rs58531272 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          19:54353166 (GRCh38)
          19:54864775 (GRCh37)
          Canonical SPDI:
          NC_000019.10:54353165:A:G
          Gene:
          LAIR1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.402293/4772 (ALFA)
          G=0.002063/3 (Korea1K)
          G=0.389616/10949 (TOMMO)
          G=0.458324/58099 (GnomAD)
          HGVS:
          7.

          rs1491375551 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            TT>- [Show Flanks]
            Chromosome:
            19:54358376 (GRCh38)
            19:54869985 (GRCh37)
            Canonical SPDI:
            NC_000019.10:54358375:TT:
            Gene:
            LAIR1 (Varview)
            Functional Consequence:
            intron_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0.000071/1 (ALFA)
            -=0.000008/2 (TOPMED)
            -=0.000024/2 (GnomAD)
            HGVS:
            8.

            rs1491298999 has merged into rs1167186423 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ATATAT>-,AT,ATAT,ATATATAT [Show Flanks]
              Chromosome:
              19:54358406 (GRCh38)
              19:54870015 (GRCh37)
              Canonical SPDI:
              NC_000019.10:54358397:ATATATATATATAT:ATATATAT,NC_000019.10:54358397:ATATATATATATAT:ATATATATAT,NC_000019.10:54358397:ATATATATATATAT:ATATATATATAT,NC_000019.10:54358397:ATATATATATATAT:ATATATATATATATAT
              Gene:
              LAIR1 (Varview)
              Functional Consequence:
              intron_variant,3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              ATATATATAT=0./0 (ALFA)
              HGVS:
              NC_000019.10:g.54358398AT[4], NC_000019.10:g.54358398AT[5], NC_000019.10:g.54358398AT[6], NC_000019.10:g.54358398AT[8], NW_004166865.1:g.332765AT[4], NW_004166865.1:g.332765AT[5], NW_004166865.1:g.332765AT[6], NW_004166865.1:g.332765AT[8], NW_003571061.2:g.340360AT[7], NW_003571061.2:g.340360AT[4], NW_003571061.2:g.340360AT[5], NW_003571061.2:g.340360AT[8], NW_003571055.2:g.339804AT[7], NW_003571055.2:g.339804AT[4], NW_003571055.2:g.339804AT[5], NW_003571055.2:g.339804AT[8], NT_187693.1:g.341121AT[7], NT_187693.1:g.341121AT[4], NT_187693.1:g.341121AT[5], NT_187693.1:g.341121AT[8], NW_003571060.1:g.263048AT[7], NW_003571060.1:g.263048AT[4], NW_003571060.1:g.263048AT[5], NW_003571060.1:g.263048AT[8], NC_000019.9:g.54870007AT[7], NC_000019.9:g.54870007AT[4], NC_000019.9:g.54870007AT[5], NC_000019.9:g.54870007AT[8], XM_017026803.3:c.*60AT[4], XM_017026803.3:c.*60AT[5], XM_017026803.3:c.*60AT[6], XM_017026803.3:c.*60AT[8], NW_003571061.1:g.340359AT[7], NW_003571061.1:g.340359AT[4], NW_003571061.1:g.340359AT[5], NW_003571061.1:g.340359AT[8], NW_003571055.1:g.339803AT[7], NW_003571055.1:g.339803AT[4], NW_003571055.1:g.339803AT[5], NW_003571055.1:g.339803AT[8]
              9.

              rs1491271075 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->TATATATAT [Show Flanks]
                Chromosome:
                19:54358400 (GRCh38)
                19:54870008 (GRCh37)
                Canonical SPDI:
                NC_000019.10:54358400:TATATATAT:TATATATATTATATATAT
                Gene:
                LAIR1 (Varview)
                Functional Consequence:
                intron_variant,3_prime_UTR_variant
                Validated:
                by frequency,by alfa
                MAF:
                TATATATATTATATATAT=0./0 (ALFA)
                HGVS:
                10.

                rs1491238498 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->A [Show Flanks]
                  Chromosome:
                  19:54358411 (GRCh38)
                  19:54870019 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:54358411::A
                  Gene:
                  LAIR1 (Varview)
                  Functional Consequence:
                  intron_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0.0004/2 (ALFA)
                  HGVS:
                  11.

                  rs1490873613 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    19:54367710 (GRCh38)
                    19:54879317 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:54367709:C:T
                    Gene:
                    LAIR1 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0.0002/1 (ALFA)
                    HGVS:
                    12.

                    rs1490857827 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      19:54353467 (GRCh38)
                      19:54865076 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:54353466:C:T
                      Gene:
                      LAIR1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (TOPMED)
                      HGVS:
                      13.

                      rs1490796812 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        19:54359939 (GRCh38)
                        19:54871546 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:54359938:C:T
                        Gene:
                        LAIR1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        HGVS:
                        14.

                        rs1490632120 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          19:54360317 (GRCh38)
                          19:54871924 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:54360316:C:T
                          Gene:
                          LAIR1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0.0344/408 (ALFA)
                          HGVS:
                          16.

                          rs1490463428 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            19:54366859 (GRCh38)
                            19:54878466 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:54366858:G:A
                            Gene:
                            LAIR1 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            17.

                            rs1490296005 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              19:54363983 (GRCh38)
                              19:54875590 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:54363982:T:G
                              Gene:
                              LAIR1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              18.

                              rs1489875978 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                19:54354083 (GRCh38)
                                19:54865692 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:54354082:C:G,NC_000019.10:54354082:C:T
                                Gene:
                                LAIR1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000019.10:g.54354083C>G, NC_000019.10:g.54354083C>T, NW_004166865.1:g.328450C>G, NW_004166865.1:g.328450C>T, NW_003571061.2:g.336045C>G, NW_003571061.2:g.336045C>T, NW_003571061.1:g.336044C>G, NW_003571061.1:g.336044C>T, NW_003571055.2:g.335489C>G, NW_003571055.2:g.335489C>T, NW_003571055.1:g.335488C>G, NW_003571055.1:g.335488C>T, NT_187693.1:g.336806C>G, NT_187693.1:g.336806C>T, NC_000019.9:g.54865692C>G, NC_000019.9:g.54865692C>T, NW_003571060.1:g.258733C>G, NW_003571060.1:g.258733C>T, NM_002287.6:c.*1185G>C, NM_002287.6:c.*1185G>A, NM_002287.5:c.*1185G>C, NM_002287.5:c.*1185G>A, NM_002287.4:c.*1185G>C, NM_002287.4:c.*1185G>A, NM_002287.3:c.*1185G>C, NM_002287.3:c.*1185G>A, NM_021706.5:c.*1185G>C, NM_021706.5:c.*1185G>A, NM_021706.4:c.*1185G>C, NM_021706.4:c.*1185G>A, NM_021706.3:c.*1185G>C, NM_021706.3:c.*1185G>A, NM_021706.2:c.*1185G>C, NM_021706.2:c.*1185G>A, NM_001289025.2:c.*1185G>C, NM_001289025.2:c.*1185G>A, NM_001289025.3:c.*1185G>C, NM_001289025.3:c.*1185G>A, NM_001289025.1:c.*1185G>C, NM_001289025.1:c.*1185G>A, NM_001289027.3:c.*1185G>C, NM_001289027.3:c.*1185G>A, NM_001289027.2:c.*1185G>C, NM_001289027.2:c.*1185G>A, NM_001289027.1:c.*1185G>C, NM_001289027.1:c.*1185G>A, NM_001289023.3:c.*1185G>C, NM_001289023.3:c.*1185G>A, NM_001289023.2:c.*1185G>C, NM_001289023.2:c.*1185G>A, NM_001289023.1:c.*1185G>C, NM_001289023.1:c.*1185G>A, NR_110279.3:n.2082G>C, NR_110279.3:n.2082G>A, NR_110279.2:n.2265G>C, NR_110279.2:n.2265G>A, NR_110279.1:n.2265G>C, NR_110279.1:n.2265G>A, XM_047438811.1:c.*1185G>C, XM_047438811.1:c.*1185G>A, XM_047438810.1:c.*1185G>C, XM_047438810.1:c.*1185G>A, NR_110280.3:n.2417G>C, NR_110280.3:n.2417G>A, NR_110280.2:n.2600G>C, NR_110280.2:n.2600G>A, NR_110280.1:n.2600G>C, NR_110280.1:n.2600G>A, NM_001289026.3:c.*1185G>C, NM_001289026.3:c.*1185G>A, NM_001289026.2:c.*1185G>C, NM_001289026.2:c.*1185G>A, NM_001289026.1:c.*1185G>C, NM_001289026.1:c.*1185G>A, XM_047438812.1:c.*1185G>C, XM_047438812.1:c.*1185G>A
                                19.

                                rs1489037579 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C,G [Show Flanks]
                                  Chromosome:
                                  19:54365414 (GRCh38)
                                  19:54877021 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:54365413:T:C,NC_000019.10:54365413:T:G
                                  Gene:
                                  LAIR1 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  C=0.000014/2 (GnomAD)
                                  HGVS:
                                  20.

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