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Items: 1 to 20 of 1745

1.

rs1490969966 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    11:65917521 (GRCh38)
    11:65684992 (GRCh37)
    Canonical SPDI:
    NC_000011.10:65917520:G:A
    Gene:
    DRAP1 (Varview), C11orf68 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000085/3 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    A=0.000007/1 (GnomAD)
    A=0.000011/3 (TOPMED)
    HGVS:
    2.

    rs1490939241 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      11:65918116 (GRCh38)
      11:65685587 (GRCh37)
      Canonical SPDI:
      NC_000011.10:65918115:G:A
      Gene:
      DRAP1 (Varview), C11orf68 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by cluster
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1489801878 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        11:65917891 (GRCh38)
        11:65685362 (GRCh37)
        Canonical SPDI:
        NC_000011.10:65917890:C:T
        Gene:
        DRAP1 (Varview), C11orf68 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by cluster
        HGVS:
        4.

        rs1489792033 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          11:65920421 (GRCh38)
          11:65687892 (GRCh37)
          Canonical SPDI:
          NC_000011.10:65920420:C:T
          Gene:
          DRAP1 (Varview), C11orf68 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000071/1 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1488889719 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            11:65919458 (GRCh38)
            11:65686929 (GRCh37)
            Canonical SPDI:
            NC_000011.10:65919457:G:T
            Gene:
            DRAP1 (Varview), C11orf68 (Varview)
            Functional Consequence:
            5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000023/6 (TOPMED)
            HGVS:
            6.

            rs1488744525 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              11:65920602 (GRCh38)
              11:65688073 (GRCh37)
              Canonical SPDI:
              NC_000011.10:65920601:C:G,NC_000011.10:65920601:C:T
              Gene:
              DRAP1 (Varview), C11orf68 (Varview)
              Functional Consequence:
              coding_sequence_variant,2KB_upstream_variant,missense_variant,synonymous_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              HGVS:
              7.

              rs1488114661 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                11:65920196 (GRCh38)
                11:65687667 (GRCh37)
                Canonical SPDI:
                NC_000011.10:65920195:G:A
                Gene:
                DRAP1 (Varview), C11orf68 (Varview)
                Functional Consequence:
                intron_variant,2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1487328715 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  11:65919519 (GRCh38)
                  11:65686990 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:65919518:G:A
                  Gene:
                  DRAP1 (Varview), C11orf68 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000007/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1487263338 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    11:65919609 (GRCh38)
                    11:65687080 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:65919608:C:T
                    Gene:
                    DRAP1 (Varview), C11orf68 (Varview)
                    Functional Consequence:
                    intron_variant,2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1486590917 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      11:65918021 (GRCh38)
                      11:65685492 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:65918020:T:C
                      Gene:
                      DRAP1 (Varview), C11orf68 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1486516871 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        11:65921987 (GRCh38)
                        11:65689458 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:65921986:A:T
                        Gene:
                        DRAP1 (Varview)
                        Functional Consequence:
                        downstream_transcript_variant,500B_downstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000029/4 (GnomAD)
                        T=0.000034/9 (TOPMED)
                        T=0.000354/6 (TOMMO)
                        T=0.001027/3 (KOREAN)
                        T=0.001093/2 (Korea1K)
                        HGVS:
                        12.

                        rs1486498200 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          11:65920953 (GRCh38)
                          11:65688424 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:65920952:C:T
                          Gene:
                          DRAP1 (Varview), C11orf68 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0.000031/1 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1486403938 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            11:65917629 (GRCh38)
                            11:65685100 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:65917628:C:T
                            Gene:
                            DRAP1 (Varview), C11orf68 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0.000111/1 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1485516045 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              11:65919167 (GRCh38)
                              11:65686638 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:65919166:G:A
                              Gene:
                              DRAP1 (Varview), C11orf68 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              A=0.000425/7 (TOMMO)
                              HGVS:
                              15.

                              rs1483750313 has merged into rs11358680 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA [Show Flanks]
                                Chromosome:
                                11:65921927 (GRCh38)
                                11:65689398 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:65921917:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:65921917:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:65921917:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:65921917:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:65921917:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:65921917:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:65921917:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:65921917:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
                                Gene:
                                DRAP1 (Varview)
                                Functional Consequence:
                                500B_downstream_variant,downstream_transcript_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                A=0./0 (ALSPAC)
                                A=0./0 (TWINSUK)
                                HGVS:
                                16.

                                rs1482596343 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  11:65919456 (GRCh38)
                                  11:65686927 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:65919455:C:G,NC_000011.10:65919455:C:T
                                  Gene:
                                  DRAP1 (Varview), C11orf68 (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  G=0.000009/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1482338579 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    11:65917473 (GRCh38)
                                    11:65684944 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:65917472:C:T
                                    Gene:
                                    DRAP1 (Varview), C11orf68 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1482310444 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      11:65918989 (GRCh38)
                                      11:65686460 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:65918988:C:G,NC_000011.10:65918988:C:T
                                      Gene:
                                      DRAP1 (Varview), C11orf68 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1482253093 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        11:65918755 (GRCh38)
                                        11:65686226 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:65918754:C:A
                                        Gene:
                                        DRAP1 (Varview), C11orf68 (Varview)
                                        Functional Consequence:
                                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000071/1 (ALFA)
                                        A=0.000011/3 (TOPMED)
                                        A=0.000021/3 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1482220567 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          11:65920627 (GRCh38)
                                          11:65688098 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:65920626:G:A
                                          Gene:
                                          DRAP1 (Varview), C11orf68 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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