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Items: 1 to 20 of 720

1.

rs1489893156 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G [Show Flanks]
    Chromosome:
    12:93572147 (GRCh38)
    12:93965923 (GRCh37)
    Canonical SPDI:
    NC_000012.12:93572146:C:A,NC_000012.12:93572146:C:G
    Gene:
    SOCS2 (Varview), SOCS2-AS1 (Varview)
    Functional Consequence:
    intron_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000011/3 (TOPMED)
    G=0.000156/1 (1000Genomes)
    HGVS:

    2.

    rs1489428481 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      12:93575162 (GRCh38)
      12:93968938 (GRCh37)
      Canonical SPDI:
      NC_000012.12:93575161:T:C
      Gene:
      SOCS2 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      HGVS:
      NC_000012.12:g.93575162T>C, NC_000012.11:g.93968938T>C, NM_003877.5:c.580T>C, NM_003877.4:c.580T>C, XM_017020155.3:c.580T>C, XM_017020155.2:c.580T>C, XM_017020155.1:c.580T>C, XM_017020148.3:c.580T>C, XM_017020148.2:c.580T>C, XM_017020148.1:c.580T>C, XM_011538936.2:c.580T>C, XM_011538936.1:c.580T>C, NM_001270467.2:c.580T>C, NM_001270467.1:c.580T>C, NM_001270468.2:c.580T>C, NM_001270468.1:c.580T>C, NM_001270469.2:c.580T>C, NM_001270469.1:c.580T>C, NM_001270471.2:c.580T>C, NM_001270471.1:c.580T>C, XM_017020151.2:c.580T>C, XM_017020151.1:c.580T>C, XM_017020152.2:c.580T>C, XM_017020152.1:c.580T>C, XM_017020147.2:c.580T>C, XM_017020147.1:c.580T>C, XR_944810.2:n.803T>C, XR_944810.1:n.995T>C, XM_017020149.2:c.580T>C, XM_017020149.1:c.580T>C, XM_011538929.2:c.580T>C, XM_011538929.1:c.580T>C, XM_011538935.2:c.580T>C, XM_011538935.1:c.580T>C, XM_047429808.1:c.580T>C, NM_001270470.1:c.580T>C, XM_047429807.1:c.580T>C, NP_003868.1:p.Tyr194His, XP_016875644.1:p.Tyr194His, XP_016875637.1:p.Tyr194His, XP_011537238.1:p.Tyr194His, NP_001257396.1:p.Tyr194His, NP_001257397.1:p.Tyr194His, NP_001257398.1:p.Tyr194His, NP_001257400.1:p.Tyr194His, XP_016875640.1:p.Tyr194His, XP_016875641.1:p.Tyr194His, XP_016875636.1:p.Tyr194His, XP_016875638.1:p.Tyr194His, XP_011537231.1:p.Tyr194His, XP_011537237.1:p.Tyr194His, XP_047285764.1:p.Tyr194His, NP_001257399.1:p.Tyr194His, XP_047285763.1:p.Tyr194His

      3.

      rs1489226832 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->C,CCC [Show Flanks]
        Chromosome:
        12:93571834 (GRCh38)
        12:93965611 (GRCh37)
        Canonical SPDI:
        NC_000012.12:93571834:CCCCCC:CCCCCCC,NC_000012.12:93571834:CCCCCC:CCCCCCCCC
        Gene:
        SOCS2 (Varview), SOCS2-AS1 (Varview)
        Functional Consequence:
        intron_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        CCCCCCCCC=0.00005/1 (ALFA)
        C=0.00621/11 (Korea1K)
        HGVS:

        4.

        rs1489210790 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          12:93576551 (GRCh38)
          12:93970327 (GRCh37)
          Canonical SPDI:
          NC_000012.12:93576550:G:A
          Gene:
          SOCS2 (Varview)
          Functional Consequence:
          downstream_transcript_variant,intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:

          5.

          rs1488244759 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C,G [Show Flanks]
            Chromosome:
            12:93572064 (GRCh38)
            12:93965840 (GRCh37)
            Canonical SPDI:
            NC_000012.12:93572063:T:C,NC_000012.12:93572063:T:G
            Gene:
            SOCS2 (Varview), SOCS2-AS1 (Varview)
            Functional Consequence:
            intron_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            G=0.000007/1 (GnomAD)
            HGVS:

            6.

            rs1487877064 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              12:93575718 (GRCh38)
              12:93969494 (GRCh37)
              Canonical SPDI:
              NC_000012.12:93575717:A:G
              Gene:
              SOCS2 (Varview)
              Functional Consequence:
              intron_variant,3_prime_UTR_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0.000071/1 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:

              7.

              rs1486703603 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTGTCATC>- [Show Flanks]
                Chromosome:
                12:93572717 (GRCh38)
                12:93966493 (GRCh37)
                Canonical SPDI:
                NC_000012.12:93572715:CTTTGTCATC:C
                Gene:
                SOCS2 (Varview), SOCS2-AS1 (Varview)
                Functional Consequence:
                5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000071/1 (ALFA)
                -=0.000014/2 (GnomAD_exomes)
                -=0.000122/17 (GnomAD)
                -=0.000312/2 (1000Genomes)
                HGVS:
                NC_000012.12:g.93572717_93572725del, NC_000012.11:g.93966493_93966501del, NM_003877.5:c.-181_-173del, NM_003877.4:c.-181_-173del, XM_017020155.3:c.-181_-173del, XM_017020155.2:c.-181_-173del, XM_017020155.1:c.-181_-173del, XM_017020148.3:c.-181_-173del, XM_017020148.2:c.-181_-173del, XM_017020148.1:c.-181_-173del, XM_011538936.2:c.-181_-173del, XM_011538936.1:c.-181_-173del, NM_001270467.2:c.-181_-173del, NM_001270467.1:c.-181_-173del, NM_001270468.2:c.-181_-173del, NM_001270468.1:c.-181_-173del, NM_001270469.2:c.-181_-173del, NM_001270469.1:c.-181_-173del, NM_001270471.2:c.-181_-173del, NM_001270471.1:c.-181_-173del, XM_017020151.2:c.-181_-173del, XM_017020151.1:c.-181_-173del, XM_017020152.2:c.-181_-173del, XM_017020152.1:c.-181_-173del, XM_017020147.2:c.-181_-173del, XM_017020147.1:c.-181_-173del, XR_944810.2:n.43_51del, XR_944810.1:n.235_243del, XM_017020149.2:c.-181_-173del, XM_017020149.1:c.-181_-173del, XM_011538929.2:c.-181_-173del, XM_011538929.1:c.-181_-173del, XM_011538935.2:c.-181_-173del, XM_011538935.1:c.-181_-173del, XM_047429808.1:c.-181_-173del, NM_001270470.1:c.-181_-173del, XM_047429807.1:c.-181_-173del

                8.

                rs1486026091 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  12:93574744 (GRCh38)
                  12:93968520 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:93574743:T:A
                  Gene:
                  SOCS2 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000011/3 (TOPMED)
                  HGVS:
                  NC_000012.12:g.93574744T>A, NC_000012.11:g.93968520T>A, NM_003877.5:c.162T>A, NM_003877.4:c.162T>A, XM_017020155.3:c.162T>A, XM_017020155.2:c.162T>A, XM_017020155.1:c.162T>A, XM_017020148.3:c.162T>A, XM_017020148.2:c.162T>A, XM_017020148.1:c.162T>A, XM_011538936.2:c.162T>A, XM_011538936.1:c.162T>A, NM_001270467.2:c.162T>A, NM_001270467.1:c.162T>A, NM_001270468.2:c.162T>A, NM_001270468.1:c.162T>A, NM_001270469.2:c.162T>A, NM_001270469.1:c.162T>A, NM_001270471.2:c.162T>A, NM_001270471.1:c.162T>A, XM_017020151.2:c.162T>A, XM_017020151.1:c.162T>A, XM_017020152.2:c.162T>A, XM_017020152.1:c.162T>A, XM_017020147.2:c.162T>A, XM_017020147.1:c.162T>A, XR_944810.2:n.385T>A, XR_944810.1:n.577T>A, XM_017020149.2:c.162T>A, XM_017020149.1:c.162T>A, XM_011538929.2:c.162T>A, XM_011538929.1:c.162T>A, XM_011538935.2:c.162T>A, XM_011538935.1:c.162T>A, XM_047429808.1:c.162T>A, NM_001270470.1:c.162T>A, XM_047429807.1:c.162T>A

                  9.

                  rs1484178236 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    12:93575895 (GRCh38)
                    12:93969671 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:93575894:A:G
                    Gene:
                    SOCS2 (Varview)
                    Functional Consequence:
                    intron_variant,3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000011/3 (TOPMED)
                    HGVS:

                    10.

                    rs1483530313 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      12:93572702 (GRCh38)
                      12:93966478 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:93572701:G:A
                      Gene:
                      SOCS2 (Varview), SOCS2-AS1 (Varview)
                      Functional Consequence:
                      5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000015/2 (GnomAD_exomes)
                      HGVS:
                      NC_000012.12:g.93572702G>A, NC_000012.11:g.93966478G>A, NM_003877.5:c.-196G>A, NM_003877.4:c.-196G>A, XM_017020155.3:c.-196G>A, XM_017020155.2:c.-196G>A, XM_017020155.1:c.-196G>A, XM_017020148.3:c.-196G>A, XM_017020148.2:c.-196G>A, XM_017020148.1:c.-196G>A, XM_011538936.2:c.-196G>A, XM_011538936.1:c.-196G>A, NM_001270467.2:c.-196G>A, NM_001270467.1:c.-196G>A, NM_001270468.2:c.-196G>A, NM_001270468.1:c.-196G>A, NM_001270469.2:c.-196G>A, NM_001270469.1:c.-196G>A, NM_001270471.2:c.-196G>A, NM_001270471.1:c.-196G>A, XM_017020151.2:c.-196G>A, XM_017020151.1:c.-196G>A, XM_017020152.2:c.-196G>A, XM_017020152.1:c.-196G>A, XM_017020147.2:c.-196G>A, XM_017020147.1:c.-196G>A, XR_944810.2:n.28G>A, XR_944810.1:n.220G>A, XM_017020149.2:c.-196G>A, XM_017020149.1:c.-196G>A, XM_011538929.2:c.-196G>A, XM_011538929.1:c.-196G>A, XM_011538935.2:c.-196G>A, XM_011538935.1:c.-196G>A, XM_047429808.1:c.-196G>A, NM_001270470.1:c.-196G>A, XM_047429807.1:c.-196G>A

                      11.

                      rs1483429439 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C,G [Show Flanks]
                        Chromosome:
                        12:93574783 (GRCh38)
                        12:93968559 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:93574782:A:C,NC_000012.12:93574782:A:G
                        Gene:
                        SOCS2 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,coding_sequence_variant,missense_variant,synonymous_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000012.12:g.93574783A>C, NC_000012.12:g.93574783A>G, NC_000012.11:g.93968559A>C, NC_000012.11:g.93968559A>G, NM_003877.5:c.201A>C, NM_003877.5:c.201A>G, NM_003877.4:c.201A>C, NM_003877.4:c.201A>G, XM_017020155.3:c.201A>C, XM_017020155.3:c.201A>G, XM_017020155.2:c.201A>C, XM_017020155.2:c.201A>G, XM_017020155.1:c.201A>C, XM_017020155.1:c.201A>G, XM_017020148.3:c.201A>C, XM_017020148.3:c.201A>G, XM_017020148.2:c.201A>C, XM_017020148.2:c.201A>G, XM_017020148.1:c.201A>C, XM_017020148.1:c.201A>G, XM_011538936.2:c.201A>C, XM_011538936.2:c.201A>G, XM_011538936.1:c.201A>C, XM_011538936.1:c.201A>G, NM_001270467.2:c.201A>C, NM_001270467.2:c.201A>G, NM_001270467.1:c.201A>C, NM_001270467.1:c.201A>G, NM_001270468.2:c.201A>C, NM_001270468.2:c.201A>G, NM_001270468.1:c.201A>C, NM_001270468.1:c.201A>G, NM_001270469.2:c.201A>C, NM_001270469.2:c.201A>G, NM_001270469.1:c.201A>C, NM_001270469.1:c.201A>G, NM_001270471.2:c.201A>C, NM_001270471.2:c.201A>G, NM_001270471.1:c.201A>C, NM_001270471.1:c.201A>G, XM_017020151.2:c.201A>C, XM_017020151.2:c.201A>G, XM_017020151.1:c.201A>C, XM_017020151.1:c.201A>G, XM_017020152.2:c.201A>C, XM_017020152.2:c.201A>G, XM_017020152.1:c.201A>C, XM_017020152.1:c.201A>G, XM_017020147.2:c.201A>C, XM_017020147.2:c.201A>G, XM_017020147.1:c.201A>C, XM_017020147.1:c.201A>G, XR_944810.2:n.424A>C, XR_944810.2:n.424A>G, XR_944810.1:n.616A>C, XR_944810.1:n.616A>G, XM_017020149.2:c.201A>C, XM_017020149.2:c.201A>G, XM_017020149.1:c.201A>C, XM_017020149.1:c.201A>G, XM_011538929.2:c.201A>C, XM_011538929.2:c.201A>G, XM_011538929.1:c.201A>C, XM_011538929.1:c.201A>G, XM_011538935.2:c.201A>C, XM_011538935.2:c.201A>G, XM_011538935.1:c.201A>C, XM_011538935.1:c.201A>G, XM_047429808.1:c.201A>C, XM_047429808.1:c.201A>G, NM_001270470.1:c.201A>C, NM_001270470.1:c.201A>G, XM_047429807.1:c.201A>C, XM_047429807.1:c.201A>G, NP_003868.1:p.Glu67Asp, XP_016875644.1:p.Glu67Asp, XP_016875637.1:p.Glu67Asp, XP_011537238.1:p.Glu67Asp, NP_001257396.1:p.Glu67Asp, NP_001257397.1:p.Glu67Asp, NP_001257398.1:p.Glu67Asp, NP_001257400.1:p.Glu67Asp, XP_016875640.1:p.Glu67Asp, XP_016875641.1:p.Glu67Asp, XP_016875636.1:p.Glu67Asp, XP_016875638.1:p.Glu67Asp, XP_011537231.1:p.Glu67Asp, XP_011537237.1:p.Glu67Asp, XP_047285764.1:p.Glu67Asp, NP_001257399.1:p.Glu67Asp, XP_047285763.1:p.Glu67Asp

                        12.

                        rs1483199165 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          12:93576574 (GRCh38)
                          12:93970350 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:93576573:G:A
                          Gene:
                          SOCS2 (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000011/3 (TOPMED)
                          HGVS:

                          13.

                          rs1481080916 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->CCATCTCTGCA [Show Flanks]
                            Chromosome:
                            12:93575059 (GRCh38)
                            12:93968836 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:93575059:GCACCATCTCTGCA:GCACCATCTCTGCACCATCTCTGCA
                            Gene:
                            SOCS2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            GCACCATCTCTGCACCATCTCTGCA=0.0004/2 (ALFA)
                            GCACCATCTCT=0.0004/2 (Estonian)
                            HGVS:
                            NC_000012.12:g.93575063_93575073dup, NC_000012.11:g.93968839_93968849dup, NM_003877.5:c.481_491dup, NM_003877.4:c.481_491dup, XM_017020155.3:c.481_491dup, XM_017020155.2:c.481_491dup, XM_017020155.1:c.481_491dup, XM_017020148.3:c.481_491dup, XM_017020148.2:c.481_491dup, XM_017020148.1:c.481_491dup, XM_011538936.2:c.481_491dup, XM_011538936.1:c.481_491dup, NM_001270467.2:c.481_491dup, NM_001270467.1:c.481_491dup, NM_001270468.2:c.481_491dup, NM_001270468.1:c.481_491dup, NM_001270469.2:c.481_491dup, NM_001270469.1:c.481_491dup, NM_001270471.2:c.481_491dup, NM_001270471.1:c.481_491dup, XM_017020151.2:c.481_491dup, XM_017020151.1:c.481_491dup, XM_017020152.2:c.481_491dup, XM_017020152.1:c.481_491dup, XM_017020147.2:c.481_491dup, XM_017020147.1:c.481_491dup, XR_944810.2:n.704_714dup, XR_944810.1:n.896_906dup, XM_017020149.2:c.481_491dup, XM_017020149.1:c.481_491dup, XM_011538929.2:c.481_491dup, XM_011538929.1:c.481_491dup, XM_011538935.2:c.481_491dup, XM_011538935.1:c.481_491dup, XM_047429808.1:c.481_491dup, NM_001270470.1:c.481_491dup, XM_047429807.1:c.481_491dup, NP_003868.1:p.Gln164fs, XP_016875644.1:p.Gln164fs, XP_016875637.1:p.Gln164fs, XP_011537238.1:p.Gln164fs, NP_001257396.1:p.Gln164fs, NP_001257397.1:p.Gln164fs, NP_001257398.1:p.Gln164fs, NP_001257400.1:p.Gln164fs, XP_016875640.1:p.Gln164fs, XP_016875641.1:p.Gln164fs, XP_016875636.1:p.Gln164fs, XP_016875638.1:p.Gln164fs, XP_011537231.1:p.Gln164fs, XP_011537237.1:p.Gln164fs, XP_047285764.1:p.Gln164fs, NP_001257399.1:p.Gln164fs, XP_047285763.1:p.Gln164fs

                            14.

                            rs1479678636 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C,G [Show Flanks]
                              Chromosome:
                              12:93571690 (GRCh38)
                              12:93965466 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:93571689:T:C,NC_000012.12:93571689:T:G
                              Gene:
                              SOCS2 (Varview), SOCS2-AS1 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              G=0./0 (Korea1K)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1478693421 has merged into rs747978490 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                GGC>-,GGCGGC,GGCGGCGGC [Show Flanks]
                                Chromosome:
                                12:93571896 (GRCh38)
                                12:93965672 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:93571883:GGCGGCGGCGGCGGC:GGCGGCGGCGGC,NC_000012.12:93571883:GGCGGCGGCGGCGGC:GGCGGCGGCGGCGGCGGC,NC_000012.12:93571883:GGCGGCGGCGGCGGC:GGCGGCGGCGGCGGCGGCGGC
                                Gene:
                                SOCS2 (Varview), SOCS2-AS1 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                GGCGGCGGCGGCGGCGGCGGC=0./0 (ALFA)
                                GGCGGC=0.000008/2 (TOPMED)
                                -=0.000024/3 (GnomAD)
                                -=0.000039/4 (GnomAD_exomes)
                                -=0.001389/14 (ExAC)
                                HGVS:
                                NC_000012.12:g.93571884GGC[4], NC_000012.12:g.93571884GGC[6], NC_000012.12:g.93571884GGC[7], NC_000012.11:g.93965660GGC[4], NC_000012.11:g.93965660GGC[6], NC_000012.11:g.93965660GGC[7], NM_001270469.2:c.-244GGC[4], NM_001270469.2:c.-244GGC[6], NM_001270469.2:c.-244GGC[7], NM_001270469.1:c.-244GGC[4], NM_001270469.1:c.-244GGC[6], NM_001270469.1:c.-244GGC[7], XM_017020151.2:c.-516GGC[4], XM_017020151.2:c.-516GGC[6], XM_017020151.2:c.-516GGC[7], XM_017020149.2:c.-244GGC[4], XM_017020149.2:c.-244GGC[6], XM_017020149.2:c.-244GGC[7], XM_017020149.1:c.-244GGC[4], XM_017020149.1:c.-244GGC[6], XM_017020149.1:c.-244GGC[7], XM_047429808.1:c.-705GGC[4], XM_047429808.1:c.-705GGC[6], XM_047429808.1:c.-705GGC[7], NM_001270470.1:c.-516GGC[4], NM_001270470.1:c.-516GGC[6], NM_001270470.1:c.-516GGC[7], XM_047429807.1:c.-705GGC[4], XM_047429807.1:c.-705GGC[6], XM_047429807.1:c.-705GGC[7]

                                16.

                                rs1478315197 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  12:93571893 (GRCh38)
                                  12:93965669 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:93571892:G:A,NC_000012.12:93571892:G:C
                                  Gene:
                                  SOCS2 (Varview), SOCS2-AS1 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  A=0.000009/1 (GnomAD_exomes)
                                  HGVS:

                                  17.

                                  rs1477664191 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    12:93572136 (GRCh38)
                                    12:93965912 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:93572135:G:A
                                    Gene:
                                    SOCS2 (Varview), SOCS2-AS1 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000015/4 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1475211074 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A,G [Show Flanks]
                                      Chromosome:
                                      12:93574972 (GRCh38)
                                      12:93968748 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:93574971:T:A,NC_000012.12:93574971:T:G
                                      Gene:
                                      SOCS2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:
                                      NC_000012.12:g.93574972T>A, NC_000012.12:g.93574972T>G, NC_000012.11:g.93968748T>A, NC_000012.11:g.93968748T>G, NM_003877.5:c.390T>A, NM_003877.5:c.390T>G, NM_003877.4:c.390T>A, NM_003877.4:c.390T>G, XM_017020155.3:c.390T>A, XM_017020155.3:c.390T>G, XM_017020155.2:c.390T>A, XM_017020155.2:c.390T>G, XM_017020155.1:c.390T>A, XM_017020155.1:c.390T>G, XM_017020148.3:c.390T>A, XM_017020148.3:c.390T>G, XM_017020148.2:c.390T>A, XM_017020148.2:c.390T>G, XM_017020148.1:c.390T>A, XM_017020148.1:c.390T>G, XM_011538936.2:c.390T>A, XM_011538936.2:c.390T>G, XM_011538936.1:c.390T>A, XM_011538936.1:c.390T>G, NM_001270467.2:c.390T>A, NM_001270467.2:c.390T>G, NM_001270467.1:c.390T>A, NM_001270467.1:c.390T>G, NM_001270468.2:c.390T>A, NM_001270468.2:c.390T>G, NM_001270468.1:c.390T>A, NM_001270468.1:c.390T>G, NM_001270469.2:c.390T>A, NM_001270469.2:c.390T>G, NM_001270469.1:c.390T>A, NM_001270469.1:c.390T>G, NM_001270471.2:c.390T>A, NM_001270471.2:c.390T>G, NM_001270471.1:c.390T>A, NM_001270471.1:c.390T>G, XM_017020151.2:c.390T>A, XM_017020151.2:c.390T>G, XM_017020151.1:c.390T>A, XM_017020151.1:c.390T>G, XM_017020152.2:c.390T>A, XM_017020152.2:c.390T>G, XM_017020152.1:c.390T>A, XM_017020152.1:c.390T>G, XM_017020147.2:c.390T>A, XM_017020147.2:c.390T>G, XM_017020147.1:c.390T>A, XM_017020147.1:c.390T>G, XR_944810.2:n.613T>A, XR_944810.2:n.613T>G, XR_944810.1:n.805T>A, XR_944810.1:n.805T>G, XM_017020149.2:c.390T>A, XM_017020149.2:c.390T>G, XM_017020149.1:c.390T>A, XM_017020149.1:c.390T>G, XM_011538929.2:c.390T>A, XM_011538929.2:c.390T>G, XM_011538929.1:c.390T>A, XM_011538929.1:c.390T>G, XM_011538935.2:c.390T>A, XM_011538935.2:c.390T>G, XM_011538935.1:c.390T>A, XM_011538935.1:c.390T>G, XM_047429808.1:c.390T>A, XM_047429808.1:c.390T>G, NM_001270470.1:c.390T>A, NM_001270470.1:c.390T>G, XM_047429807.1:c.390T>A, XM_047429807.1:c.390T>G

                                      19.

                                      rs1475001038 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        12:93571988 (GRCh38)
                                        12:93965764 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:93571987:G:A
                                        Gene:
                                        SOCS2 (Varview), SOCS2-AS1 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000094/1 (ALFA)
                                        A=0.000008/2 (TOPMED)
                                        A=0.000014/2 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1474631720 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          12:93575510 (GRCh38)
                                          12:93969286 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:93575509:G:A
                                          Gene:
                                          SOCS2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,3_prime_UTR_variant,intron_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000012.12:g.93575510G>A, NC_000012.11:g.93969286G>A, NM_003877.5:c.*331G>A, NM_003877.4:c.*331G>A, XM_017020148.3:c.592G>A, XM_017020148.2:c.592G>A, XM_017020148.1:c.592G>A, NM_001270467.2:c.*331G>A, NM_001270467.1:c.*331G>A, NM_001270468.2:c.*331G>A, NM_001270468.1:c.*331G>A, NM_001270469.2:c.*331G>A, NM_001270469.1:c.*331G>A, NM_001270471.2:c.*331G>A, NM_001270471.1:c.*331G>A, XM_017020151.2:c.592G>A, XM_017020151.1:c.592G>A, XM_017020152.2:c.592G>A, XM_017020152.1:c.592G>A, XM_017020147.2:c.592G>A, XM_017020147.1:c.592G>A, XM_017020149.2:c.592G>A, XM_017020149.1:c.592G>A, XM_047429808.1:c.*331G>A, NM_001270470.1:c.*331G>A, XM_047429807.1:c.592G>A, XP_016875637.1:p.Val198Ile, XP_016875640.1:p.Val198Ile, XP_016875641.1:p.Val198Ile, XP_016875636.1:p.Val198Ile, XP_016875638.1:p.Val198Ile, XP_047285763.1:p.Val198Ile

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