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Items: 1 to 20 of 1799

1.

rs2295954 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    6:15249821 (GRCh38)
    6:15250052 (GRCh37)
    Canonical SPDI:
    NC_000006.12:15249820:G:A
    Gene:
    JARID2 (Varview), JARID2-AS1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.083702/17175 (ALFA)
    A=0./0 (PRJEB36033)
    A=0.04078/46 (Daghestan)
    A=0.053333/32 (NorthernSweden)
    A=0.054038/906 (TOMMO)
    A=0.059701/112 (HapMap)
    A=0.061836/310 (1000Genomes)
    A=0.064815/14 (Vietnamese)
    A=0.072526/151 (HGDP_Stanford)
    A=0.078225/10967 (GnomAD)
    A=0.078677/20825 (TOPMED)
    A=0.084061/154 (Korea1K)
    A=0.092631/357 (ALSPAC)
    A=0.095469/354 (TWINSUK)
    A=0.096192/96 (GoNL)
    A=0.1/4 (GENOME_DK)
    A=0.104437/306 (KOREAN)
    A=0.112946/506 (Estonian)
    A=0.143519/31 (Qatari)
    A=0.14377/90 (Chileans)
    G=0.477778/43 (SGDP_PRJ)
    G=0.5/2 (Siberian)
    HGVS:
    2.

    rs3215722 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TAG>-,TAGTAG [Show Flanks]
      Chromosome:
      6:15250285 (GRCh38)
      6:15250516 (GRCh37)
      Canonical SPDI:
      NC_000006.12:15250282:AGTAG:AG,NC_000006.12:15250282:AGTAG:AGTAGTAG
      Gene:
      JARID2 (Varview), JARID2-AS1 (Varview)
      Functional Consequence:
      2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AG=0.203478/3768 (ALFA)
      -=0.185696/49152 (TOPMED)
      -=0.190166/26640 (GnomAD)
      -=0.199866/895 (Estonian)
      -=0.213333/128 (NorthernSweden)
      -=0.225/9 (GENOME_DK)
      -=0.233645/50 (Vietnamese)
      -=0.236785/878 (TWINSUK)
      -=0.237416/915 (ALSPAC)
      -=0.239479/239 (GoNL)
      -=0.248602/4167 (TOMMO)
      HGVS:
      3.

      rs4715970 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C,G,T [Show Flanks]
        Chromosome:
        6:15249846 (GRCh38)
        6:15250077 (GRCh37)
        Canonical SPDI:
        NC_000006.12:15249845:A:C,NC_000006.12:15249845:A:G,NC_000006.12:15249845:A:T
        Gene:
        JARID2 (Varview), JARID2-AS1 (Varview)
        Functional Consequence:
        2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000923/16 (ALFA)
        A=0./0 (ALSPAC)
        A=0./0 (GENOME_DK)
        C=0./0 (KOREAN)
        A=0./0 (Korea1K)
        A=0./0 (NorthernSweden)
        A=0./0 (Qatari)
        A=0./0 (Siberian)
        A=0./0 (TOMMO)
        A=0./0 (TWINSUK)
        A=0./0 (Vietnamese)
        A=0.001792/1 (SGDP_PRJ)
        A=0.00203/10 (1000Genomes)
        A=0.002339/619 (TOPMED)
        A=0.002396/336 (GnomAD)
        HGVS:
        4.

        rs10712805 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
          Chromosome:
          6:15247430 (GRCh38)
          6:15247661 (GRCh37)
          Canonical SPDI:
          NC_000006.12:15247423:TTTTTTTTTTTTTT:TTTTTT,NC_000006.12:15247423:TTTTTTTTTTTTTT:TTTTTTT,NC_000006.12:15247423:TTTTTTTTTTTTTT:TTTTTTTT,NC_000006.12:15247423:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:15247423:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:15247423:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:15247423:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:15247423:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:15247423:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:15247423:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:15247423:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
          Gene:
          JARID2 (Varview), JARID2-AS1 (Varview)
          Functional Consequence:
          upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTT=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          -=0.291645/1124 (ALSPAC)
          -=0.294229/1091 (TWINSUK)
          -=0.3/12 (GENOME_DK)
          -=0.408147/2044 (1000Genomes)
          HGVS:
          5.

          rs35054058 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->A [Show Flanks]
            Chromosome:
            6:15249804 (GRCh38)
            6:15250036 (GRCh37)
            Canonical SPDI:
            NC_000006.12:15249804:AAA:AAAA
            Gene:
            JARID2 (Varview), JARID2-AS1 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
            HGVS:
            6.

            rs59815123 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              6:15250389 (GRCh38)
              6:15250620 (GRCh37)
              Canonical SPDI:
              NC_000006.12:15250388:G:A
              Gene:
              JARID2 (Varview), JARID2-AS1 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.012691/183 (ALFA)
              A=0.000259/1 (ALSPAC)
              A=0.000809/3 (TWINSUK)
              A=0.00463/1 (Qatari)
              A=0.01827/91 (1000Genomes)
              A=0.018513/2594 (GnomAD)
              A=0.019362/5125 (TOPMED)
              G=0.5/9 (SGDP_PRJ)
              HGVS:
              7.

              rs67284836 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT [Show Flanks]
                Chromosome:
                6:15247542 (GRCh38)
                6:15247773 (GRCh37)
                Canonical SPDI:
                NC_000006.12:15247533:TTTTTTTTTTT:TTTTTTTT,NC_000006.12:15247533:TTTTTTTTTTT:TTTTTTTTT,NC_000006.12:15247533:TTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:15247533:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:15247533:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:15247533:TTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:15247533:TTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:15247533:TTTTTTTTTTT:TTTTTTTTTTTTTTTTT
                Gene:
                JARID2 (Varview), JARID2-AS1 (Varview)
                Functional Consequence:
                upstream_transcript_variant,downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTT=0./0 (ALFA)
                -=0.3954/1980 (1000Genomes)
                HGVS:
                8.

                rs67284837 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  6:15247545 (GRCh38)
                  6:15247776 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:15247544:C:A,NC_000006.12:15247544:C:T
                  Gene:
                  JARID2 (Varview), JARID2-AS1 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,500B_downstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.001969/32 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.001451/24 (TOMMO)
                  T=0.007266/32 (Estonian)
                  T=0.030801/90 (KOREAN)
                  T=0.134259/29 (Qatari)
                  HGVS:
                  9.

                  rs72200514 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    AAG>- [Show Flanks]
                    Chromosome:
                    6:15247550 (GRCh38)
                    6:15247781 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:15247549:AAG:
                    Gene:
                    JARID2 (Varview), JARID2-AS1 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    -=0.037437/610 (ALFA)
                    -=0.025168/15 (NorthernSweden)
                    -=0.032953/127 (ALSPAC)
                    -=0.033063/147 (Estonian)
                    -=0.033194/556 (TOMMO)
                    -=0.033711/125 (TWINSUK)
                    -=0.043933/6120 (GnomAD)
                    -=0.044262/81 (Korea1K)
                    -=0.04747/238 (1000Genomes)
                    HGVS:
                    10.

                    rs73724790 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      6:15247468 (GRCh38)
                      6:15247699 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:15247467:G:A,NC_000006.12:15247467:G:C
                      Gene:
                      JARID2 (Varview), JARID2-AS1 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,500B_downstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.001118/16 (ALFA)
                      C=0.000342/1 (KOREAN)
                      C=0.001002/1 (GoNL)
                      C=0.006724/932 (GnomAD)
                      C=0.007178/1900 (TOPMED)
                      C=0.007964/40 (1000Genomes)
                      C=0.009259/2 (Qatari)
                      G=0.375/3 (SGDP_PRJ)
                      HGVS:
                      11.

                      rs73724791 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        6:15249593 (GRCh38)
                        6:15249824 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:15249592:A:G
                        Gene:
                        JARID2 (Varview), JARID2-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.000208/3 (ALFA)
                        G=0.00088/233 (TOPMED)
                        G=0.000913/128 (GnomAD)
                        G=0.001249/6 (1000Genomes)
                        G=0.00463/1 (Qatari)
                        A=0.5/1 (SGDP_PRJ)
                        HGVS:
                        12.

                        rs73724792 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          6:15249869 (GRCh38)
                          6:15250100 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:15249868:T:C
                          Gene:
                          JARID2 (Varview), JARID2-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000214/3 (ALFA)
                          C=0.000192/27 (GnomAD)
                          C=0.000215/57 (TOPMED)
                          C=0.000312/2 (1000Genomes)
                          HGVS:
                          13.

                          rs75764096 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C,T [Show Flanks]
                            Chromosome:
                            6:15250264 (GRCh38)
                            6:15250495 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:15250263:G:A,NC_000006.12:15250263:G:C,NC_000006.12:15250263:G:T
                            Gene:
                            JARID2 (Varview), JARID2-AS1 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.018831/335 (ALFA)
                            A=0./0 (Korea1K)
                            T=0.000035/1 (TOMMO)
                            A=0.009259/2 (Qatari)
                            A=0.039286/176 (Estonian)
                            A=0.043591/168 (ALSPAC)
                            A=0.047465/176 (TWINSUK)
                            A=0.048563/243 (1000Genomes)
                            A=0.052681/7244 (GnomAD)
                            A=0.055/33 (NorthernSweden)
                            A=0.057154/15128 (TOPMED)
                            A=0.063126/63 (GoNL)
                            A=0.125/5 (GENOME_DK)
                            G=0.452381/19 (SGDP_PRJ)
                            G=0.5/2 (Siberian)
                            HGVS:
                            14.

                            rs75941579 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              6:15247880 (GRCh38)
                              6:15248111 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:15247879:A:G
                              Gene:
                              JARID2 (Varview), JARID2-AS1 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.000624/9 (ALFA)
                              G=0.001041/146 (GnomAD)
                              G=0.001628/431 (TOPMED)
                              G=0.007183/36 (1000Genomes)
                              G=0.024641/72 (KOREAN)
                              G=0.034934/64 (Korea1K)
                              G=0.037335/626 (TOMMO)
                              G=0.070755/15 (Vietnamese)
                              A=0.4/4 (SGDP_PRJ)
                              A=0.5/3 (Siberian)
                              HGVS:
                              15.

                              rs79327808 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                6:15249009 (GRCh38)
                                6:15249240 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:15249008:C:T
                                Gene:
                                JARID2 (Varview), JARID2-AS1 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000277/4 (ALFA)
                                T=0.00097/136 (GnomAD)
                                T=0.002267/600 (TOPMED)
                                T=0.00463/1 (Qatari)
                                T=0.006402/32 (1000Genomes)
                                T=0.023585/5 (Vietnamese)
                                T=0.054462/913 (TOMMO)
                                T=0.06059/111 (Korea1K)
                                T=0.063313/185 (KOREAN)
                                C=0.5/1 (Siberian)
                                C=0.5/8 (SGDP_PRJ)
                                HGVS:
                                16.

                                rs79777194 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  6:15249570 (GRCh38)
                                  6:15249801 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:15249569:A:G
                                  Gene:
                                  JARID2 (Varview), JARID2-AS1 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.088936/1680 (ALFA)
                                  G=0.051887/11 (Vietnamese)
                                  G=0.053333/32 (NorthernSweden)
                                  G=0.054073/906 (TOMMO)
                                  G=0.061836/310 (1000Genomes)
                                  G=0.078018/10937 (GnomAD)
                                  G=0.078548/20791 (TOPMED)
                                  G=0.083515/153 (Korea1K)
                                  G=0.092372/356 (ALSPAC)
                                  G=0.093186/93 (GoNL)
                                  G=0.09493/352 (TWINSUK)
                                  G=0.1/4 (GENOME_DK)
                                  G=0.104437/306 (KOREAN)
                                  G=0.112723/505 (Estonian)
                                  G=0.143519/31 (Qatari)
                                  A=0.477778/43 (SGDP_PRJ)
                                  A=0.5/2 (Siberian)
                                  HGVS:
                                  17.

                                  rs111928694 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    6:15248133 (GRCh38)
                                    6:15248364 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:15248132:G:A,NC_000006.12:15248132:G:C
                                    Gene:
                                    JARID2 (Varview), JARID2-AS1 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs113213471 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C,G [Show Flanks]
                                      Chromosome:
                                      6:15248337 (GRCh38)
                                      6:15248568 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:15248336:T:C,NC_000006.12:15248336:T:G
                                      Gene:
                                      JARID2 (Varview), JARID2-AS1 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.496/9176 (ALFA)
                                      T=0.289017/100 (SGDP_PRJ)
                                      T=0.375/9 (Siberian)
                                      G=0.375409/6149 (TOMMO)
                                      G=0.415/249 (NorthernSweden)
                                      G=0.429694/1094 (KOREAN)
                                      G=0.447368/17 (GENOME_DK)
                                      G=0.450701/1737 (ALSPAC)
                                      G=0.457232/2042 (Estonian)
                                      G=0.460895/1709 (TWINSUK)
                                      T=0.462211/2315 (1000Genomes)
                                      T=0.471707/124856 (TOPMED)
                                      T=0.473019/61518 (GnomAD)
                                      G=0.486111/105 (Qatari)
                                      HGVS:
                                      19.

                                      rs114409942 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        6:15247991 (GRCh38)
                                        6:15248222 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:15247990:G:A
                                        Gene:
                                        JARID2 (Varview), JARID2-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.005615/96 (ALFA)
                                        A=0./0 (ALSPAC)
                                        A=0.00027/1 (TWINSUK)
                                        A=0.005309/27 (1000Genomes)
                                        A=0.005983/839 (GnomAD)
                                        A=0.006423/1700 (TOPMED)
                                        G=0.5/3 (SGDP_PRJ)
                                        HGVS:
                                        20.

                                        rs114836551 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          6:15250216 (GRCh38)
                                          6:15250447 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:15250215:A:G
                                          Gene:
                                          JARID2 (Varview), JARID2-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.001942/28 (ALFA)
                                          G=0.003068/812 (TOPMED)
                                          G=0.003123/16 (1000Genomes)
                                          G=0.003265/458 (GnomAD)
                                          G=0.00463/1 (Qatari)
                                          A=0.5/1 (SGDP_PRJ)
                                          HGVS:

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