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Items: 1 to 20 of 7512

1.

rs1491576541 has merged into rs11314559 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
    Chromosome:
    2:159788116 (GRCh38)
    2:160644627 (GRCh37)
    Canonical SPDI:
    NC_000002.12:159788105:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:159788105:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:159788105:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:159788105:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:159788105:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:159788105:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
    Gene:
    CD302 (Varview), LY75-CD302 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAAAA=0./0 (ALFA)
    HGVS:
    2.

    rs1491550704 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      2:159779230 (GRCh38)
      2:160635741 (GRCh37)
      Canonical SPDI:
      NC_000002.12:159779229:CA:
      Gene:
      CD302 (Varview), LY75-CD302 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.00438/52 (ALFA)
      -=0.00144/22 (TOMMO)
      HGVS:
      3.

      rs1491499734 has merged into rs56015039 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TT>-,T,TTT [Show Flanks]
        Chromosome:
        2:159789034 (GRCh38)
        2:160645545 (GRCh37)
        Canonical SPDI:
        NC_000002.12:159789022:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:159789022:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:159789022:TTTTTTTTTTTTT:TTTTTTTTTTTTTT
        Gene:
        CD302 (Varview), LY75-CD302 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTTTTT=0./0 (ALFA)
        -=0.32927/1649 (1000Genomes)
        -=0.34333/206 (NorthernSweden)
        -=0.36673/366 (GoNL)
        -=0.375/15 (GENOME_DK)
        HGVS:
        4.

        rs1491495073 [Homo sapiens]
          Variant type:
          SNV:
          Alleles:
          ->C
          Chromosome:
          no mapping
          Canonical SPDI:
          5.

          rs1491360294 has merged into rs10656353 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AA>-,A,AAA,AAAA,AAAAA,AAAAAA [Show Flanks]
            Chromosome:
            2:159794315 (GRCh38)
            2:160650826 (GRCh37)
            Canonical SPDI:
            NC_000002.12:159794305:AAAAAAAAAAA:AAAAAAAAA,NC_000002.12:159794305:AAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:159794305:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:159794305:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:159794305:AAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:159794305:AAAAAAAAAAA:AAAAAAAAAAAAAAA
            Gene:
            CD302 (Varview), LY75-CD302 (Varview), LOC124906083 (Varview)
            Functional Consequence:
            upstream_transcript_variant,intron_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAA=0./0 (ALFA)
            AA=0.07965/1332 (TOMMO)
            -=0.35643/1785 (1000Genomes)
            HGVS:
            6.

            rs1491299824 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              TA>- [Show Flanks]
              Chromosome:
              2:159777714 (GRCh38)
              2:160634225 (GRCh37)
              Canonical SPDI:
              NC_000002.12:159777713:TA:
              Gene:
              CD302 (Varview), LY75-CD302 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              -=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1491244097 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TA>- [Show Flanks]
                Chromosome:
                2:159794305 (GRCh38)
                2:160650816 (GRCh37)
                Canonical SPDI:
                NC_000002.12:159794303:ATA:A
                Gene:
                CD302 (Varview), LY75-CD302 (Varview), LOC124906083 (Varview)
                Functional Consequence:
                upstream_transcript_variant,intron_variant,2KB_upstream_variant
                Validated:
                by frequency,by cluster
                MAF:
                -=0.00007/2 (TOMMO)
                -=0.00061/1 (Korea1K)
                -=0.00089/29 (GnomAD)
                HGVS:
                8.

                rs1491109324 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  AT>- [Show Flanks]
                  Chromosome:
                  2:159789022 (GRCh38)
                  2:160645533 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:159789021:AT:
                  Gene:
                  CD302 (Varview), LY75-CD302 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1491097464 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    AT>- [Show Flanks]
                    Chromosome:
                    2:159782443 (GRCh38)
                    2:160638954 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:159782442:AT:
                    Gene:
                    CD302 (Varview), LY75-CD302 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0.000071/1 (ALFA)
                    -=0.00002/2 (GnomAD)
                    HGVS:
                    10.

                    rs1491005070 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      TG>- [Show Flanks]
                      Chromosome:
                      2:159784992 (GRCh38)
                      2:160641503 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:159784991:TG:
                      Gene:
                      CD302 (Varview), LY75-CD302 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      -=0.002276/27 (ALFA)
                      -=0.000414/55 (GnomAD)
                      HGVS:
                      11.

                      rs1490995938 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        2:159791681 (GRCh38)
                        2:160648192 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:159791680:T:A
                        Gene:
                        CD302 (Varview), LY75-CD302 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000011/3 (TOPMED)
                        A=0.000021/3 (GnomAD)
                        HGVS:
                        13.

                        rs1490913041 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          2:159784113 (GRCh38)
                          2:160640624 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:159784112:G:C
                          Gene:
                          CD302 (Varview), LY75-CD302 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          14.

                          rs1490805543 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            2:159791230 (GRCh38)
                            2:160647741 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:159791229:T:A
                            Gene:
                            CD302 (Varview), LY75-CD302 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            15.

                            rs1490794773 has merged into rs3138650 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              GTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
                              Chromosome:
                              2:159792442 (GRCh38)
                              2:160648953 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
                              Gene:
                              CD302 (Varview), LY75-CD302 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
                              -=0.4738/2373 (1000Genomes)
                              TGTGTGTGTGTGTGTG=0.5/20 (GENOME_DK)
                              HGVS:
                              NC_000002.12:g.159792424GT[9], NC_000002.12:g.159792424GT[10], NC_000002.12:g.159792424GT[11], NC_000002.12:g.159792424GT[12], NC_000002.12:g.159792424GT[13], NC_000002.12:g.159792424GT[14], NC_000002.12:g.159792424GT[15], NC_000002.12:g.159792424GT[16], NC_000002.12:g.159792424GT[17], NC_000002.12:g.159792424GT[18], NC_000002.12:g.159792424GT[19], NC_000002.12:g.159792424GT[20], NC_000002.12:g.159792424GT[21], NC_000002.12:g.159792424GT[23], NC_000002.12:g.159792424GT[24], NC_000002.12:g.159792424GT[25], NC_000002.12:g.159792424GT[26], NC_000002.12:g.159792424GT[27], NC_000002.12:g.159792424GT[28], NC_000002.12:g.159792424GT[29], NC_000002.12:g.159792424GT[30], NC_000002.12:g.159792424GT[31], NC_000002.12:g.159792424GT[32], NC_000002.12:g.159792424GT[33], NC_000002.12:g.159792424GT[35], NC_000002.12:g.159792424GT[36], NC_000002.11:g.160648935GT[9], NC_000002.11:g.160648935GT[10], NC_000002.11:g.160648935GT[11], NC_000002.11:g.160648935GT[12], NC_000002.11:g.160648935GT[13], NC_000002.11:g.160648935GT[14], NC_000002.11:g.160648935GT[15], NC_000002.11:g.160648935GT[16], NC_000002.11:g.160648935GT[17], NC_000002.11:g.160648935GT[18], NC_000002.11:g.160648935GT[19], NC_000002.11:g.160648935GT[20], NC_000002.11:g.160648935GT[21], NC_000002.11:g.160648935GT[23], NC_000002.11:g.160648935GT[24], NC_000002.11:g.160648935GT[25], NC_000002.11:g.160648935GT[26], NC_000002.11:g.160648935GT[27], NC_000002.11:g.160648935GT[28], NC_000002.11:g.160648935GT[29], NC_000002.11:g.160648935GT[30], NC_000002.11:g.160648935GT[31], NC_000002.11:g.160648935GT[32], NC_000002.11:g.160648935GT[33], NC_000002.11:g.160648935GT[35], NC_000002.11:g.160648935GT[36]
                              16.

                              rs1490642029 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                2:159791901 (GRCh38)
                                2:160648412 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:159791900:C:T
                                Gene:
                                CD302 (Varview), LY75-CD302 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000036/5 (GnomAD)
                                T=0.000053/14 (TOPMED)
                                HGVS:
                                17.

                                rs1490612101 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  2:159778295 (GRCh38)
                                  2:160634806 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:159778294:T:C
                                  Gene:
                                  CD302 (Varview), LY75-CD302 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000029/4 (GnomAD)
                                  HGVS:
                                  18.

                                  rs1490599539 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    2:159792899 (GRCh38)
                                    2:160649410 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:159792898:C:T
                                    Gene:
                                    CD302 (Varview), LY75-CD302 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000023/6 (TOPMED)
                                    HGVS:
                                    19.

                                    rs1490469088 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      2:159774269 (GRCh38)
                                      2:160630780 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:159774268:T:C
                                      Gene:
                                      CD302 (Varview), LY75-CD302 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000066/1 (ALFA)
                                      C=0.000008/2 (TOPMED)
                                      C=0.000014/2 (GnomAD)
                                      C=0.000223/1 (Estonian)
                                      HGVS:
                                      20.

                                      rs1490377230 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        2:159777513 (GRCh38)
                                        2:160634024 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:159777512:G:C
                                        Gene:
                                        CD302 (Varview), LY75-CD302 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        C=0.000019/5 (TOPMED)
                                        HGVS:

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