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Items: 1 to 20 of 1966

1.

rs1049745 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    17:36210966 (GRCh38)
    17:34538368 (GRCh37)
    Canonical SPDI:
    NC_000017.11:36210965:A:G
    Gene:
    CCL4L2 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000066/9 (GnomAD)
    G=0.000156/1 (1000Genomes)
    HGVS:
    2.

    rs1810104 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      17:36210711 (GRCh38)
      17:34538113 (GRCh37)
      Canonical SPDI:
      NC_000017.11:36210710:C:A
      Gene:
      CCL4L2 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.118951/1411 (ALFA)
      A=0.114821/15090 (GnomAD)
      A=0.170206/852 (1000Genomes)
      C=0.26875/43 (SGDP_PRJ)
      A=0.292894/4188 (TOMMO)
      A=0.29893/782 (KOREAN)
      C=0.363636/32 (Qatari)
      HGVS:
      3.

      rs2277660 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,G [Show Flanks]
        Chromosome:
        17:36211106 (GRCh38)
        17:34538508 (GRCh37)
        Canonical SPDI:
        NC_000017.11:36211105:C:A,NC_000017.11:36211105:C:G
        Gene:
        CCL4L2 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,5_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        C=0./0 (SGDP_PRJ)
        A=0.07692/14 (GnomAD_exomes)
        A=0.0876/561 (1000Genomes)
        A=0.08945/100 (KOREAN)
        A=0.19901/1081 (TOMMO)
        HGVS:
        NC_000017.11:g.36211106C>A, NC_000017.11:g.36211106C>G, NG_026174.1:g.49629C>A, NG_026174.1:g.49629C>G, NT_187661.1:g.165243C>A, NT_187661.1:g.165243C>G, NC_000017.10:g.34538508C>A, NC_000017.10:g.34538508C>G, NT_187614.1:g.446010C>A, NT_187614.1:g.446010C>G, NW_003315949.1:g.95862C>A, NW_003315949.1:g.95862C>G, NM_001291470.2:c.-36C>A, NM_001291470.2:c.-36C>G, NM_001291470.1:c.-36C>A, NM_001291470.1:c.-36C>G, NM_001291469.2:c.-36C>A, NM_001291469.2:c.-36C>G, NM_001291469.1:c.-36C>A, NM_001291469.1:c.-36C>G, NM_001291475.2:c.-36C>A, NM_001291475.2:c.-36C>G, NM_001291475.1:c.-36C>A, NM_001291475.1:c.-36C>G, NM_001291471.2:c.-36C>A, NM_001291471.2:c.-36C>G, NM_001291471.1:c.-36C>A, NM_001291471.1:c.-36C>G, NM_001291472.2:c.-36C>A, NM_001291472.2:c.-36C>G, NM_001291472.1:c.-36C>A, NM_001291472.1:c.-36C>G, NM_001291473.2:c.-36C>A, NM_001291473.2:c.-36C>G, NM_001291473.1:c.-36C>A, NM_001291473.1:c.-36C>G, NM_001291474.2:c.-36C>A, NM_001291474.2:c.-36C>G, NM_001291474.1:c.-36C>A, NM_001291474.1:c.-36C>G, NM_001291468.2:c.-36C>A, NM_001291468.2:c.-36C>G, NM_001291468.1:c.-36C>A, NM_001291468.1:c.-36C>G, NR_111970.2:n.44C>A, NR_111970.2:n.44C>G, NR_111970.1:n.44C>A, NR_111970.1:n.44C>G, NM_207007.2:c.-36C>A, NM_207007.2:c.-36C>G, NM_207007.3:c.-36C>A, NM_207007.3:c.-36C>G, NM_001001435.2:c.-36C>A, NM_001001435.2:c.-36C>G
        4.

        rs2940985 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          17:36211948 (GRCh38)
          17:34539350 (GRCh37)
          Canonical SPDI:
          NC_000017.11:36211947:G:A
          Gene:
          CCL4L2 (Varview)
          Functional Consequence:
          intron_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000044/6 (GnomAD)
          HGVS:
          5.

          rs3744594 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            17:36211979 (GRCh38)
            17:34539381 (GRCh37)
            Canonical SPDI:
            NC_000017.11:36211978:T:C
            Gene:
            CCL4L2 (Varview)
            Functional Consequence:
            intron_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.341764/4054 (ALFA)
            C=0.000353/1 (KOREAN)
            T=0.363863/47792 (GnomAD)
            C=0.365372/10294 (TOMMO)
            T=0.470956/3016 (1000Genomes)
            HGVS:
            6.

            rs3744596 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              17:36211785 (GRCh38)
              17:34539187 (GRCh37)
              Canonical SPDI:
              NC_000017.11:36211784:A:T
              Gene:
              CCL4L2 (Varview)
              Functional Consequence:
              intron_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.006913/82 (ALFA)
              T=0.007435/1008 (GnomAD)
              T=0.039975/256 (1000Genomes)
              T=0.057058/2485 (GnomAD_exomes)
              T=0.087174/87 (ExAC)
              T=0.218397/3360 (TOMMO)
              T=0.226652/631 (KOREAN)
              A=0.482759/28 (SGDP_PRJ)
              HGVS:
              7.

              rs3744597 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C,G [Show Flanks]
                Chromosome:
                17:36211725 (GRCh38)
                17:34539127 (GRCh37)
                Canonical SPDI:
                NC_000017.11:36211724:A:C,NC_000017.11:36211724:A:G
                Gene:
                CCL4L2 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.006585/68 (ALFA)
                C=0.067581/9163 (GnomAD)
                C=0.082605/414 (1000Genomes)
                C=0.13034/3527 (GnomAD_exomes)
                C=0.134199/62 (ExAC)
                C=0.161395/449 (KOREAN)
                C=0.198943/3139 (TOMMO)
                A=0.393617/37 (SGDP_PRJ)
                HGVS:
                8.

                rs3826453 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  17:36212133 (GRCh38)
                  17:34539535 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:36212132:G:C
                  Gene:
                  CCL4L2 (Varview)
                  Functional Consequence:
                  intron_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.008262/98 (ALFA)
                  C=0.006391/873 (GnomAD)
                  C=0.054185/271 (1000Genomes)
                  C=0.088017/3486 (GnomAD_exomes)
                  C=0.152765/2379 (TOMMO)
                  C=0.166309/465 (KOREAN)
                  C=0.256757/19 (ExAC)
                  G=0.296296/16 (SGDP_PRJ)
                  HGVS:
                  9.

                  rs4013800 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    17:36210500 (GRCh38)
                    17:34537902 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:36210499:A:G
                    Gene:
                    CCL4L2 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.013994/166 (ALFA)
                    G=0.011428/1540 (GnomAD)
                    G=0.019831/127 (1000Genomes)
                    A=0.5/2 (SGDP_PRJ)
                    HGVS:
                    10.

                    rs4796193 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,G,T [Show Flanks]
                      Chromosome:
                      17:36212342 (GRCh38)
                      17:34539744 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:36212341:C:A,NC_000017.11:36212341:C:G,NC_000017.11:36212341:C:T
                      Gene:
                      CCL4L2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,synonymous_variant,intron_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      T=0.00014/12 (GnomAD_exomes)
                      T=0.00073/8 (ExAC)
                      C=0.40912/2620 (1000Genomes)
                      HGVS:
                      NC_000017.11:g.36212342C>A, NC_000017.11:g.36212342C>G, NC_000017.11:g.36212342C>T, NG_026174.1:g.50865C>A, NG_026174.1:g.50865C>G, NG_026174.1:g.50865C>T, NT_187661.1:g.166479C>A, NT_187661.1:g.166479C>G, NT_187661.1:g.166479C>T, NC_000017.10:g.34539744C>A, NC_000017.10:g.34539744C>G, NC_000017.10:g.34539744C>T, NT_187614.1:g.447246C>A, NT_187614.1:g.447246C>G, NT_187614.1:g.447246C>T, NW_003315949.1:g.97098C>A, NW_003315949.1:g.97098C>G, NW_003315949.1:g.97098C>T, NM_001291470.2:c.*448C>A, NM_001291470.2:c.*448C>G, NM_001291470.2:c.*448C>T, NM_001291470.1:c.*448C>A, NM_001291470.1:c.*448C>G, NM_001291470.1:c.*448C>T, NM_001291469.2:c.*46C>A, NM_001291469.2:c.*46C>G, NM_001291469.2:c.*46C>T, NM_001291469.1:c.*46C>A, NM_001291469.1:c.*46C>G, NM_001291469.1:c.*46C>T, NM_001291475.2:c.231C>A, NM_001291475.2:c.231C>G, NM_001291475.2:c.231C>T, NM_001291475.1:c.231C>A, NM_001291475.1:c.231C>G, NM_001291475.1:c.231C>T, NM_001291471.2:c.221C>A, NM_001291471.2:c.221C>G, NM_001291471.2:c.221C>T, NM_001291471.1:c.221C>A, NM_001291471.1:c.221C>G, NM_001291471.1:c.221C>T, NM_001291472.2:c.200C>A, NM_001291472.2:c.200C>G, NM_001291472.2:c.200C>T, NM_001291472.1:c.200C>A, NM_001291472.1:c.200C>G, NM_001291472.1:c.200C>T, NM_001291474.2:c.126C>A, NM_001291474.2:c.126C>G, NM_001291474.2:c.126C>T, NM_001291474.1:c.126C>A, NM_001291474.1:c.126C>G, NM_001291474.1:c.126C>T, NP_001278400.1:p.Pro74Gln, NP_001278400.1:p.Pro74Arg, NP_001278400.1:p.Pro74Leu, NP_001278401.1:p.Pro67Gln, NP_001278401.1:p.Pro67Arg, NP_001278401.1:p.Pro67Leu
                      11.

                      rs4796194 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C,T [Show Flanks]
                        Chromosome:
                        17:36212343 (GRCh38)
                        17:34539745 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:36212342:G:A,NC_000017.11:36212342:G:C,NC_000017.11:36212342:G:T
                        Gene:
                        CCL4L2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,synonymous_variant,intron_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.267568/2871 (ALFA)
                        A=0.011509/986 (GnomAD_exomes)
                        A=0.0127/143 (ExAC)
                        G=0.083333/5 (SGDP_PRJ)
                        A=0.102415/246 (KOREAN)
                        G=0.287361/38757 (GnomAD)
                        G=0.342598/2194 (1000Genomes)
                        G=0.401008/5428 (TOMMO)
                        HGVS:
                        NC_000017.11:g.36212343G>A, NC_000017.11:g.36212343G>C, NC_000017.11:g.36212343G>T, NG_026174.1:g.50866G>A, NG_026174.1:g.50866G>C, NG_026174.1:g.50866G>T, NT_187661.1:g.166480G>A, NT_187661.1:g.166480G>C, NT_187661.1:g.166480G>T, NC_000017.10:g.34539745G>A, NC_000017.10:g.34539745G>C, NC_000017.10:g.34539745G>T, NT_187614.1:g.447247G>A, NT_187614.1:g.447247G>C, NT_187614.1:g.447247G>T, NW_003315949.1:g.97099G>A, NW_003315949.1:g.97099G>C, NW_003315949.1:g.97099G>T, NM_001291470.2:c.*449G>A, NM_001291470.2:c.*449G>C, NM_001291470.2:c.*449G>T, NM_001291470.1:c.*449G>A, NM_001291470.1:c.*449G>C, NM_001291470.1:c.*449G>T, NM_001291469.2:c.*47G>A, NM_001291469.2:c.*47G>C, NM_001291469.2:c.*47G>T, NM_001291469.1:c.*47G>A, NM_001291469.1:c.*47G>C, NM_001291469.1:c.*47G>T, NM_001291475.2:c.232G>A, NM_001291475.2:c.232G>C, NM_001291475.2:c.232G>T, NM_001291475.1:c.232G>A, NM_001291475.1:c.232G>C, NM_001291475.1:c.232G>T, NM_001291471.2:c.222G>A, NM_001291471.2:c.222G>C, NM_001291471.2:c.222G>T, NM_001291471.1:c.222G>A, NM_001291471.1:c.222G>C, NM_001291471.1:c.222G>T, NM_001291472.2:c.201G>A, NM_001291472.2:c.201G>C, NM_001291472.2:c.201G>T, NM_001291472.1:c.201G>A, NM_001291472.1:c.201G>C, NM_001291472.1:c.201G>T, NM_001291474.2:c.127G>A, NM_001291474.2:c.127G>C, NM_001291474.2:c.127G>T, NM_001291474.1:c.127G>A, NM_001291474.1:c.127G>C, NM_001291474.1:c.127G>T, NP_001278404.1:p.Gly78Arg, NP_001278404.1:p.Gly78Arg, NP_001278404.1:p.Gly78Trp, NP_001278403.1:p.Gly43Arg, NP_001278403.1:p.Gly43Arg, NP_001278403.1:p.Gly43Trp
                        12.

                        rs4796195 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          17:36212480 (GRCh38)
                          17:34539882 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:36212479:G:A
                          Gene:
                          CCL4L2 (Varview)
                          Functional Consequence:
                          intron_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.272551/3233 (ALFA)
                          G=0./0 (SGDP_PRJ)
                          A=0.00262/158 (ExAC)
                          A=0.005053/633 (GnomAD_exomes)
                          A=0.006367/15 (KOREAN)
                          G=0.294031/39716 (GnomAD)
                          G=0.356964/2286 (1000Genomes)
                          G=0.405622/5417 (TOMMO)
                          HGVS:
                          13.

                          rs34215949 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->T [Show Flanks]
                            Chromosome:
                            17:36209303 (GRCh38)
                            17:34536706 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:36209303:TTTTTTT:TTTTTTTT
                            Gene:
                            CCL4L2 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TTTTTTTT=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000035/1 (TOMMO)
                            HGVS:
                            14.

                            rs35968316 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              17:36213267 (GRCh38)
                              17:34540668 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:36213266:A:G
                              Gene:
                              CCL4L2 (Varview)
                              Functional Consequence:
                              500B_downstream_variant,downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.04992/810 (ALFA)
                              G=0.000177/3 (TOMMO)
                              G=0.009213/46 (1000Genomes)
                              G=0.044198/4549 (GnomAD)
                              G=0.048658/29 (NorthernSweden)
                              HGVS:
                              15.

                              rs36074765 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                G>-,GG [Show Flanks]
                                Chromosome:
                                17:36213156 (GRCh38)
                                17:34642124 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:36213155:GGGG:GGG,NC_000017.11:36213155:GGGG:GGGGG
                                Gene:
                                CCL4L2 (Varview)
                                Functional Consequence:
                                500B_downstream_variant,downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                GGG=0.13421/1592 (ALFA)
                                -=0.152956/20196 (GnomAD)
                                -=0.256871/1645 (1000Genomes)
                                -=0.405977/11438 (TOMMO)
                                HGVS:
                                16.

                                rs62078208 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  17:36209541 (GRCh38)
                                  17:34536943 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:36209540:G:A
                                  Gene:
                                  CCL4L2 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.01526/181 (ALFA)
                                  G=0./0 (SGDP_PRJ)
                                  A=0.00004/1 (TOMMO)
                                  HGVS:
                                  17.

                                  rs62078209 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    17:36211739 (GRCh38)
                                    17:34539141 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:36211738:T:C
                                    Gene:
                                    CCL4L2 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000337/4 (ALFA)
                                    C=0.000156/1 (1000Genomes)
                                    C=0.000252/8 (GnomAD_exomes)
                                    C=0.000285/39 (GnomAD)
                                    C=0.000355/10 (TOMMO)
                                    C=0.001432/4 (KOREAN)
                                    HGVS:
                                    18.

                                    rs76113962 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      17:36210485 (GRCh38)
                                      17:34537887 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:36210484:C:T
                                      Gene:
                                      CCL4L2 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.091806/1089 (ALFA)
                                      T=0.083969/220 (KOREAN)
                                      T=0.092407/12252 (GnomAD)
                                      T=0.116958/749 (1000Genomes)
                                      T=0.198396/2707 (TOMMO)
                                      C=0.294118/20 (SGDP_PRJ)
                                      HGVS:
                                      19.

                                      rs77897802 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        17:36212117 (GRCh38)
                                        17:34539519 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:36212116:G:A
                                        Gene:
                                        CCL4L2 (Varview)
                                        Functional Consequence:
                                        intron_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.02293/272 (ALFA)
                                        A=0.024481/3297 (GnomAD)
                                        A=0.089007/570 (1000Genomes)
                                        A=0.200327/3169 (TOMMO)
                                        HGVS:
                                        20.

                                        rs78664168 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          17:36212150 (GRCh38)
                                          17:34539552 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:36212149:G:A
                                          Gene:
                                          CCL4L2 (Varview)
                                          Functional Consequence:
                                          intron_variant,3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.135812/1611 (ALFA)
                                          A=0.019155/777 (GnomAD_exomes)
                                          A=0.051471/7 (ExAC)
                                          A=0.157649/20909 (GnomAD)
                                          A=0.273891/1754 (1000Genomes)
                                          G=0.347561/57 (SGDP_PRJ)
                                          A=0.413121/1165 (KOREAN)
                                          A=0.430397/6524 (TOMMO)
                                          HGVS:

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