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Items: 1 to 20 of 13651

1.

rs474602 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A,C [Show Flanks]
    Chromosome:
    11:66647347 (GRCh38)
    11:66414818 (GRCh37)
    Canonical SPDI:
    NC_000011.10:66647346:T:A,NC_000011.10:66647346:T:C
    Gene:
    RBM4 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.457808/8648 (ALFA)
    A=0.193387/193 (GoNL)
    T=0.293651/111 (SGDP_PRJ)
    A=0.3125/75 (HapMap)
    T=0.375/18 (Siberian)
    T=0.416667/90 (Qatari)
    A=0.420518/2106 (1000Genomes)
    A=0.423275/59234 (GnomAD)
    A=0.433406/794 (Korea1K)
    A=0.434765/115078 (TOPMED)
    T=0.435/261 (NorthernSweden)
    A=0.436177/1278 (KOREAN)
    A=0.45/18 (GENOME_DK)
    A=0.453571/2032 (Estonian)
    T=0.476807/1768 (TWINSUK)
    T=0.480799/1853 (ALSPAC)
    T=0.482164/8079 (TOMMO)
    HGVS:
    2.

    rs476009 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      11:66653778 (GRCh38)
      11:66421249 (GRCh37)
      Canonical SPDI:
      NC_000011.10:66653777:A:C
      Gene:
      RBM4 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,intron_variant
      Validated:
      by frequency
      MAF:
      C=0./0 (HapMap)
      HGVS:
      3.

      rs481296 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        11:66652083 (GRCh38)
        11:66419554 (GRCh37)
        Canonical SPDI:
        NC_000011.10:66652082:C:T
        Gene:
        RBM4 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.283072/42334 (ALFA)
        C=0.173077/9 (Siberian)
        C=0.194779/97 (SGDP_PRJ)
        C=0.219048/46 (Vietnamese)
        C=0.22/132 (NorthernSweden)
        C=0.229351/3843 (TOMMO)
        C=0.248921/923 (TWINSUK)
        C=0.250501/250 (GoNL)
        C=0.260045/1165 (Estonian)
        C=0.263882/1017 (ALSPAC)
        C=0.275/11 (GENOME_DK)
        C=0.300926/65 (Qatari)
        C=0.302402/554 (Korea1K)
        C=0.314334/921 (KOREAN)
        C=0.324641/1626 (1000Genomes)
        C=0.335354/46904 (GnomAD)
        C=0.337716/89390 (TOPMED)
        C=0.394486/744 (HapMap)
        HGVS:
        4.

        rs484514 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          11:66643432 (GRCh38)
          11:66410903 (GRCh37)
          Canonical SPDI:
          NC_000011.10:66643431:T:G
          Gene:
          RBM4 (Varview), RBM14-RBM4 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency
          MAF:
          G=0./0 (HapMap)
          HGVS:
          5.

          rs485484 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            11:66643326 (GRCh38)
            11:66410797 (GRCh37)
            Canonical SPDI:
            NC_000011.10:66643325:T:C
            Gene:
            RBM4 (Varview), RBM14-RBM4 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency
            MAF:
            C=0./0 (HapMap)
            HGVS:
            6.

            rs491377 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              11:66663730 (GRCh38)
              11:66431201 (GRCh37)
              Canonical SPDI:
              NC_000011.10:66663729:A:G
              Gene:
              RBM4 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.072189/1275 (ALFA)
              G=0.017034/17 (GoNL)
              G=0.065265/5136 (PAGE_STUDY)
              G=0.079408/8419 (GnomAD)
              G=0.095/57 (NorthernSweden)
              G=0.125/5 (GENOME_DK)
              G=0.136161/610 (Estonian)
              G=0.19988/1001 (1000Genomes)
              G=0.223952/3753 (TOMMO)
              G=0.225962/47 (Vietnamese)
              G=0.25/54 (Qatari)
              G=0.274017/502 (Korea1K)
              G=0.338567/992 (KOREAN)
              A=0.419753/68 (SGDP_PRJ)
              A=0.5/10 (Siberian)
              HGVS:
              7.

              rs500983 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                11:66644969 (GRCh38)
                11:66412440 (GRCh37)
                Canonical SPDI:
                NC_000011.10:66644968:T:G
                Gene:
                RBM4 (Varview), RBM14-RBM4 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0./0 (HapMap)
                HGVS:
                8.

                rs508933 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  11:66637181 (GRCh38)
                  11:66404652 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:66637180:A:T
                  Gene:
                  RBM4 (Varview), RBM14-RBM4 (Varview)
                  Functional Consequence:
                  intron_variant,2KB_upstream_variant,upstream_transcript_variant
                  HGVS:
                  9.

                  rs512207 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    11:66654155 (GRCh38)
                    11:66421626 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:66654154:C:T
                    Gene:
                    RBM4 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.003606/52 (ALFA)
                    T=0.004643/651 (GnomAD)
                    T=0.004997/25 (1000Genomes)
                    T=0.005214/1380 (TOPMED)
                    HGVS:
                    10.

                    rs512516 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,G [Show Flanks]
                      Chromosome:
                      11:66661464 (GRCh38)
                      11:66428935 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:66661463:C:A,NC_000011.10:66661463:C:G
                      Gene:
                      RBM4 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      HGVS:
                      11.

                      rs513599 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        11:66667689 (GRCh38)
                        11:66435160 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:66667688:A:C
                        Gene:
                        RBM4 (Varview), RBM4B (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0./0 (HapMap)
                        HGVS:
                        12.

                        rs519380 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          11:66641938 (GRCh38)
                          11:66409409 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:66641937:G:A
                          Gene:
                          RBM4 (Varview), RBM14-RBM4 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.202361/41034 (ALFA)
                          A=0.045455/2 (PRJEB36033)
                          A=0.097222/21 (Qatari)
                          A=0.111437/1867 (TOMMO)
                          A=0.12115/354 (KOREAN)
                          A=0.122271/224 (Korea1K)
                          A=0.135106/254 (HapMap)
                          A=0.15584/780 (1000Genomes)
                          A=0.156243/41356 (TOPMED)
                          A=0.166507/347 (HGDP_Stanford)
                          A=0.17525/24536 (GnomAD)
                          A=0.194389/194 (GoNL)
                          A=0.215/129 (NorthernSweden)
                          A=0.215101/829 (ALSPAC)
                          A=0.227077/842 (TWINSUK)
                          A=0.228972/49 (Vietnamese)
                          A=0.286161/1282 (Estonian)
                          A=0.3/12 (GENOME_DK)
                          G=0.38961/60 (SGDP_PRJ)
                          G=0.5/13 (Siberian)
                          HGVS:
                          13.

                          rs519919 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            11:66653003 (GRCh38)
                            11:66420474 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:66653002:G:T
                            Gene:
                            RBM4 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0./0 (HapMap)
                            HGVS:
                            14.

                            rs532551 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              11:66660130 (GRCh38)
                              11:66427601 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:66660129:T:C
                              Gene:
                              RBM4 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000084/1 (ALFA)
                              C=0./0 (HapMap)
                              C=0.000009/1 (GnomAD)
                              T=0.5/2 (SGDP_PRJ)
                              HGVS:
                              15.

                              rs536887 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A,C [Show Flanks]
                                Chromosome:
                                11:66653786 (GRCh38)
                                11:66421257 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:66653785:T:A,NC_000011.10:66653785:T:C
                                Gene:
                                RBM4 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                C=0.00034/1 (KOREAN)
                                C=0.00055/1 (Korea1K)
                                C=0.00064/11 (TOMMO)
                                HGVS:
                                16.

                                rs548144 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  11:66656000 (GRCh38)
                                  11:66423471 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:66655999:T:G
                                  Gene:
                                  RBM4 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant
                                  HGVS:
                                  17.

                                  rs554234 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    11:66643312 (GRCh38)
                                    11:66410783 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:66643311:T:C
                                    Gene:
                                    RBM4 (Varview), RBM14-RBM4 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by cluster
                                    HGVS:
                                    18.

                                    rs561224 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      11:66666886 (GRCh38)
                                      11:66434357 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:66666885:A:C
                                      Gene:
                                      RBM4 (Varview), RBM4B (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0./0 (HapMap)
                                      HGVS:
                                      19.

                                      rs561438 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        11:66666968 (GRCh38)
                                        11:66434439 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:66666967:T:G
                                        Gene:
                                        RBM4 (Varview), RBM4B (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
                                        HGVS:
                                        20.

                                        rs563344 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          11:66652890 (GRCh38)
                                          11:66420361 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:66652889:G:A
                                          Gene:
                                          RBM4 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.068131/1287 (ALFA)
                                          A=0.023148/5 (Qatari)
                                          A=0.042034/162 (ALSPAC)
                                          A=0.044088/44 (GoNL)
                                          A=0.052589/195 (TWINSUK)
                                          A=0.053957/14282 (TOPMED)
                                          A=0.061949/8679 (GnomAD)
                                          A=0.074641/374 (1000Genomes)
                                          A=0.09/54 (NorthernSweden)
                                          A=0.095159/1595 (TOMMO)
                                          A=0.108624/199 (Korea1K)
                                          A=0.109856/321 (KOREAN)
                                          A=0.125/5 (GENOME_DK)
                                          A=0.127232/570 (Estonian)
                                          A=0.152381/32 (Vietnamese)
                                          G=0.411765/42 (SGDP_PRJ)
                                          G=0.5/7 (Siberian)
                                          HGVS:

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