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Items: 1 to 20 of 496

1.

rs1487411118 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    1:154465238 (GRCh38)
    1:154437714 (GRCh37)
    Canonical SPDI:
    NC_000001.11:154465237:C:T
    Gene:
    IL6R (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,missense_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    NC_000001.11:g.154465238C>T, NC_000001.10:g.154437714C>T, NG_012087.1:g.65046C>T, NM_000565.4:c.1265C>T, NM_000565.3:c.1265C>T, NM_181359.3:c.*73C>T, NM_181359.2:c.*73C>T, NM_001382769.1:c.1364C>T, NM_001382770.1:c.1358C>T, NM_001382771.1:c.1313C>T, NM_001382772.1:c.1259C>T, NM_001382773.1:c.*73C>T, NM_001382774.1:c.905C>T, XM_017001199.2:c.1412C>T, XM_017001199.1:c.1412C>T, XM_005245139.2:c.1029C>T, XM_005245139.1:c.1029C>T, XM_047419648.1:c.1349C>T, XM_047419649.1:c.1301C>T, XM_047419650.1:c.1202C>T, XM_047419655.1:c.1077C>T, NP_000556.1:p.Pro422Leu, NP_001369698.1:p.Pro455Leu, NP_001369699.1:p.Pro453Leu, NP_001369700.1:p.Pro438Leu, NP_001369701.1:p.Pro420Leu, NP_001369703.1:p.Pro302Leu, XP_016856688.1:p.Pro471Leu, XP_047275604.1:p.Pro450Leu, XP_047275605.1:p.Pro434Leu, XP_047275606.1:p.Pro401Leu

    2.

    rs1486691203 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      1:154429409 (GRCh38)
      1:154401885 (GRCh37)
      Canonical SPDI:
      NC_000001.11:154429408:G:A
      Gene:
      IL6R (Varview)
      Functional Consequence:
      intron_variant,missense_variant,coding_sequence_variant
      HGVS:
      NC_000001.11:g.154429409G>A, NC_000001.10:g.154401885G>A, NG_012087.1:g.29217G>A, NM_000565.4:c.299G>A, NM_000565.3:c.299G>A, NM_181359.3:c.299G>A, NM_181359.2:c.299G>A, NM_001206866.2:c.299G>A, NM_001206866.1:c.299G>A, NM_001382769.1:c.299G>A, NM_001382770.1:c.299G>A, NM_001382771.1:c.299G>A, NM_001382772.1:c.299G>A, NM_001382773.1:c.299G>A, XM_017001199.2:c.299G>A, XM_017001199.1:c.299G>A, XM_005245139.2:c.299G>A, XM_005245139.1:c.299G>A, XM_047419648.1:c.236G>A, XM_047419649.1:c.236G>A, XM_047419650.1:c.236G>A, XM_047419655.1:c.299G>A, XM_047419654.1:c.299G>A, XM_047419656.1:c.299G>A, XM_047419657.1:c.299G>A, NP_000556.1:p.Gly100Asp, NP_852004.1:p.Gly100Asp, NP_001193795.1:p.Gly100Asp, NP_001369698.1:p.Gly100Asp, NP_001369699.1:p.Gly100Asp, NP_001369700.1:p.Gly100Asp, NP_001369701.1:p.Gly100Asp, NP_001369702.1:p.Gly100Asp, XP_016856688.1:p.Gly100Asp, XP_005245196.1:p.Gly100Asp, XP_047275604.1:p.Gly79Asp, XP_047275605.1:p.Gly79Asp, XP_047275606.1:p.Gly79Asp, XP_047275611.1:p.Gly100Asp, XP_047275610.1:p.Gly100Asp, XP_047275612.1:p.Gly100Asp, XP_047275613.1:p.Gly100Asp

      3.

      rs1484463661 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        1:154435978 (GRCh38)
        1:154408454 (GRCh37)
        Canonical SPDI:
        NC_000001.11:154435977:C:G
        Gene:
        IL6R (Varview)
        Functional Consequence:
        intron_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.154435978C>G, NC_000001.10:g.154408454C>G, NG_012087.1:g.35786C>G, NM_000565.4:c.817C>G, NM_000565.3:c.817C>G, NM_181359.3:c.817C>G, NM_181359.2:c.817C>G, NM_001206866.2:c.817C>G, NM_001206866.1:c.817C>G, NM_001382769.1:c.817C>G, NM_001382770.1:c.817C>G, NM_001382771.1:c.817C>G, NM_001382772.1:c.811C>G, NM_001382773.1:c.817C>G, NM_001382774.1:c.457C>G, XM_017001199.2:c.817C>G, XM_017001199.1:c.817C>G, XM_047419648.1:c.754C>G, XM_047419649.1:c.754C>G, XM_047419650.1:c.754C>G, NP_000556.1:p.Leu273Val, NP_852004.1:p.Leu273Val, NP_001193795.1:p.Leu273Val, NP_001369698.1:p.Leu273Val, NP_001369699.1:p.Leu273Val, NP_001369700.1:p.Leu273Val, NP_001369701.1:p.Leu271Val, NP_001369702.1:p.Leu273Val, NP_001369703.1:p.Leu153Val, XP_016856688.1:p.Leu273Val, XP_047275604.1:p.Leu252Val, XP_047275605.1:p.Leu252Val, XP_047275606.1:p.Leu252Val

        4.

        rs1484149205 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          1:154465212 (GRCh38)
          1:154437688 (GRCh37)
          Canonical SPDI:
          NC_000001.11:154465211:G:T
          Gene:
          IL6R (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,missense_variant
          Validated:
          by frequency
          MAF:
          T=0.000008/2 (GnomAD_exomes)
          HGVS:

          5.

          rs1482442401 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            1:154405674 (GRCh38)
            1:154378150 (GRCh37)
            Canonical SPDI:
            NC_000001.11:154405673:G:C
            Gene:
            IL6R (Varview), IL6R-AS1 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            HGVS:

            6.

            rs1478348800 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:154434695 (GRCh38)
              1:154407171 (GRCh37)
              Canonical SPDI:
              NC_000001.11:154434694:G:A
              Gene:
              IL6R (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000015/4 (TOPMED)
              HGVS:
              NC_000001.11:g.154434695G>A, NC_000001.10:g.154407171G>A, NG_012087.1:g.34503G>A, NM_000565.4:c.635G>A, NM_000565.3:c.635G>A, NM_181359.3:c.635G>A, NM_181359.2:c.635G>A, NM_001206866.2:c.635G>A, NM_001206866.1:c.635G>A, NM_001382769.1:c.635G>A, NM_001382770.1:c.635G>A, NM_001382771.1:c.635G>A, NM_001382772.1:c.635G>A, NM_001382773.1:c.635G>A, NM_001382774.1:c.275G>A, XM_017001199.2:c.635G>A, XM_017001199.1:c.635G>A, XM_005245139.2:c.635G>A, XM_005245139.1:c.635G>A, XM_047419648.1:c.572G>A, XM_047419649.1:c.572G>A, XM_047419650.1:c.572G>A, XM_047419655.1:c.635G>A, XM_047419654.1:c.635G>A, XM_047419656.1:c.635G>A, XM_047419657.1:c.635G>A, NP_000556.1:p.Gly212Glu, NP_852004.1:p.Gly212Glu, NP_001193795.1:p.Gly212Glu, NP_001369698.1:p.Gly212Glu, NP_001369699.1:p.Gly212Glu, NP_001369700.1:p.Gly212Glu, NP_001369701.1:p.Gly212Glu, NP_001369702.1:p.Gly212Glu, NP_001369703.1:p.Gly92Glu, XP_016856688.1:p.Gly212Glu, XP_005245196.1:p.Gly212Glu, XP_047275604.1:p.Gly191Glu, XP_047275605.1:p.Gly191Glu, XP_047275606.1:p.Gly191Glu, XP_047275611.1:p.Gly212Glu, XP_047275610.1:p.Gly212Glu, XP_047275612.1:p.Gly212Glu, XP_047275613.1:p.Gly212Glu

              7.

              rs1477631010 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                1:154454554 (GRCh38)
                1:154427030 (GRCh37)
                Canonical SPDI:
                NC_000001.11:154454553:C:T
                Gene:
                IL6R (Varview)
                Functional Consequence:
                intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000008/2 (GnomAD_exomes)
                T=0.000035/1 (TOMMO)
                HGVS:
                NC_000001.11:g.154454554C>T, NC_000001.10:g.154427030C>T, NG_012087.1:g.54362C>T, NM_000565.4:c.1133C>T, NM_000565.3:c.1133C>T, NM_001382769.1:c.1232C>T, NM_001382770.1:c.1226C>T, NM_001382771.1:c.1181C>T, NM_001382772.1:c.1127C>T, NM_001382774.1:c.773C>T, XM_017001199.2:c.1280C>T, XM_017001199.1:c.1280C>T, XM_047419648.1:c.1217C>T, XM_047419649.1:c.1169C>T, XM_047419650.1:c.1070C>T, XM_047419654.1:c.1138C>T, XM_047419656.1:c.1090C>T, XM_047419657.1:c.1039C>T, NP_000556.1:p.Thr378Met, NP_001369698.1:p.Thr411Met, NP_001369699.1:p.Thr409Met, NP_001369700.1:p.Thr394Met, NP_001369701.1:p.Thr376Met, NP_001369703.1:p.Thr258Met, XP_016856688.1:p.Thr427Met, XP_047275604.1:p.Thr406Met, XP_047275605.1:p.Thr390Met, XP_047275606.1:p.Thr357Met, XP_047275610.1:p.Arg380Cys, XP_047275612.1:p.Arg364Cys, XP_047275613.1:p.Arg347Cys

                8.

                rs1477270559 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  1:154405683 (GRCh38)
                  1:154378159 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:154405682:G:T
                  Gene:
                  IL6R (Varview), IL6R-AS1 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
                  HGVS:

                  9.

                  rs1476319720 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    1:154434674 (GRCh38)
                    1:154407150 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:154434673:C:A
                    Gene:
                    IL6R (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000001.11:g.154434674C>A, NC_000001.10:g.154407150C>A, NG_012087.1:g.34482C>A, NM_000565.4:c.614C>A, NM_000565.3:c.614C>A, NM_181359.3:c.614C>A, NM_181359.2:c.614C>A, NM_001206866.2:c.614C>A, NM_001206866.1:c.614C>A, NM_001382769.1:c.614C>A, NM_001382770.1:c.614C>A, NM_001382771.1:c.614C>A, NM_001382772.1:c.614C>A, NM_001382773.1:c.614C>A, NM_001382774.1:c.254C>A, XM_017001199.2:c.614C>A, XM_017001199.1:c.614C>A, XM_005245139.2:c.614C>A, XM_005245139.1:c.614C>A, XM_047419648.1:c.551C>A, XM_047419649.1:c.551C>A, XM_047419650.1:c.551C>A, XM_047419655.1:c.614C>A, XM_047419654.1:c.614C>A, XM_047419656.1:c.614C>A, XM_047419657.1:c.614C>A, NP_000556.1:p.Thr205Asn, NP_852004.1:p.Thr205Asn, NP_001193795.1:p.Thr205Asn, NP_001369698.1:p.Thr205Asn, NP_001369699.1:p.Thr205Asn, NP_001369700.1:p.Thr205Asn, NP_001369701.1:p.Thr205Asn, NP_001369702.1:p.Thr205Asn, NP_001369703.1:p.Thr85Asn, XP_016856688.1:p.Thr205Asn, XP_005245196.1:p.Thr205Asn, XP_047275604.1:p.Thr184Asn, XP_047275605.1:p.Thr184Asn, XP_047275606.1:p.Thr184Asn, XP_047275611.1:p.Thr205Asn, XP_047275610.1:p.Thr205Asn, XP_047275612.1:p.Thr205Asn, XP_047275613.1:p.Thr205Asn

                    10.

                    rs1474991105 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      1:154436089 (GRCh38)
                      1:154408565 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:154436088:G:A
                      Gene:
                      IL6R (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000071/1 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000001.11:g.154436089G>A, NC_000001.10:g.154408565G>A, NG_012087.1:g.35897G>A, NM_000565.4:c.928G>A, NM_000565.3:c.928G>A, NM_181359.3:c.928G>A, NM_181359.2:c.928G>A, NM_001206866.2:c.928G>A, NM_001206866.1:c.928G>A, NM_001382769.1:c.928G>A, NM_001382770.1:c.928G>A, NM_001382771.1:c.928G>A, NM_001382772.1:c.922G>A, NM_001382773.1:c.928G>A, NM_001382774.1:c.568G>A, XM_017001199.2:c.928G>A, XM_017001199.1:c.928G>A, XM_047419648.1:c.865G>A, XM_047419649.1:c.865G>A, XM_047419650.1:c.865G>A, NP_000556.1:p.Ala310Thr, NP_852004.1:p.Ala310Thr, NP_001193795.1:p.Ala310Thr, NP_001369698.1:p.Ala310Thr, NP_001369699.1:p.Ala310Thr, NP_001369700.1:p.Ala310Thr, NP_001369701.1:p.Ala308Thr, NP_001369702.1:p.Ala310Thr, NP_001369703.1:p.Ala190Thr, XP_016856688.1:p.Ala310Thr, XP_047275604.1:p.Ala289Thr, XP_047275605.1:p.Ala289Thr, XP_047275606.1:p.Ala289Thr

                      11.

                      rs1473417055 [Homo sapiens]
                        Variant type:
                        SNV:
                        Alleles:
                        >
                        Chromosome:
                        no mapping
                        Canonical SPDI:

                        12.

                        rs1471126539 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G,T [Show Flanks]
                          Chromosome:
                          1:154465239 (GRCh38)
                          1:154437715 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:154465238:A:G,NC_000001.11:154465238:A:T
                          Gene:
                          IL6R (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          G=0.000004/1 (GnomAD_exomes)
                          T=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000001.11:g.154465239A>G, NC_000001.11:g.154465239A>T, NC_000001.10:g.154437715A>G, NC_000001.10:g.154437715A>T, NG_012087.1:g.65047A>G, NG_012087.1:g.65047A>T, NM_000565.4:c.1266A>G, NM_000565.4:c.1266A>T, NM_000565.3:c.1266A>G, NM_000565.3:c.1266A>T, NM_181359.3:c.*74A>G, NM_181359.3:c.*74A>T, NM_181359.2:c.*74A>G, NM_181359.2:c.*74A>T, NM_001382769.1:c.1365A>G, NM_001382769.1:c.1365A>T, NM_001382770.1:c.1359A>G, NM_001382770.1:c.1359A>T, NM_001382771.1:c.1314A>G, NM_001382771.1:c.1314A>T, NM_001382772.1:c.1260A>G, NM_001382772.1:c.1260A>T, NM_001382773.1:c.*74A>G, NM_001382773.1:c.*74A>T, NM_001382774.1:c.906A>G, NM_001382774.1:c.906A>T, XM_017001199.2:c.1413A>G, XM_017001199.2:c.1413A>T, XM_017001199.1:c.1413A>G, XM_017001199.1:c.1413A>T, XM_005245139.2:c.1030A>G, XM_005245139.2:c.1030A>T, XM_005245139.1:c.1030A>G, XM_005245139.1:c.1030A>T, XM_047419648.1:c.1350A>G, XM_047419648.1:c.1350A>T, XM_047419649.1:c.1302A>G, XM_047419649.1:c.1302A>T, XM_047419650.1:c.1203A>G, XM_047419650.1:c.1203A>T, XM_047419655.1:c.1078A>G, XM_047419655.1:c.1078A>T, XP_005245196.1:p.Ser344Gly, XP_005245196.1:p.Ser344Cys, XP_047275611.1:p.Ser360Gly, XP_047275611.1:p.Ser360Cys

                          13.

                          rs1468329259 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            1:154434559 (GRCh38)
                            1:154407035 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:154434558:T:C
                            Gene:
                            IL6R (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Clinical significance:
                            uncertain-significance
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000001.11:g.154434559T>C, NC_000001.10:g.154407035T>C, NG_012087.1:g.34367T>C, NM_000565.4:c.499T>C, NM_000565.3:c.499T>C, NM_181359.3:c.499T>C, NM_181359.2:c.499T>C, NM_001206866.2:c.499T>C, NM_001206866.1:c.499T>C, NM_001382769.1:c.499T>C, NM_001382770.1:c.499T>C, NM_001382771.1:c.499T>C, NM_001382772.1:c.499T>C, NM_001382773.1:c.499T>C, NM_001382774.1:c.139T>C, XM_017001199.2:c.499T>C, XM_017001199.1:c.499T>C, XM_005245139.2:c.499T>C, XM_005245139.1:c.499T>C, XM_047419648.1:c.436T>C, XM_047419649.1:c.436T>C, XM_047419650.1:c.436T>C, XM_047419655.1:c.499T>C, XM_047419654.1:c.499T>C, XM_047419656.1:c.499T>C, XM_047419657.1:c.499T>C, NP_000556.1:p.Tyr167His, NP_852004.1:p.Tyr167His, NP_001193795.1:p.Tyr167His, NP_001369698.1:p.Tyr167His, NP_001369699.1:p.Tyr167His, NP_001369700.1:p.Tyr167His, NP_001369701.1:p.Tyr167His, NP_001369702.1:p.Tyr167His, NP_001369703.1:p.Tyr47His, XP_016856688.1:p.Tyr167His, XP_005245196.1:p.Tyr167His, XP_047275604.1:p.Tyr146His, XP_047275605.1:p.Tyr146His, XP_047275606.1:p.Tyr146His, XP_047275611.1:p.Tyr167His, XP_047275610.1:p.Tyr167His, XP_047275612.1:p.Tyr167His, XP_047275613.1:p.Tyr167His

                            14.

                            rs1467563623 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              C>- [Show Flanks]
                              Chromosome:
                              1:154430523 (GRCh38)
                              1:154402999 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:154430522:CCCCC:CCCC
                              Gene:
                              IL6R (Varview)
                              Functional Consequence:
                              coding_sequence_variant,frameshift_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              CCCC=0./0 (ALFA)
                              -=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000001.11:g.154430527del, NC_000001.10:g.154403003del, NG_012087.1:g.30335del, NM_000565.4:c.379del, NM_000565.3:c.379del, NM_181359.3:c.379del, NM_181359.2:c.379del, NM_001206866.2:c.379del, NM_001206866.1:c.379del, NM_001382769.1:c.379del, NM_001382770.1:c.379del, NM_001382771.1:c.379del, NM_001382772.1:c.379del, NM_001382773.1:c.379del, XM_017001199.2:c.379del, XM_017001199.1:c.379del, XM_005245139.2:c.379del, XM_005245139.1:c.379del, XM_047419648.1:c.316del, XM_047419649.1:c.316del, XM_047419650.1:c.316del, XM_047419655.1:c.379del, XM_047419654.1:c.379del, XM_047419656.1:c.379del, XM_047419657.1:c.379del, NP_000556.1:p.Leu127fs, NP_852004.1:p.Leu127fs, NP_001193795.1:p.Leu127fs, NP_001369698.1:p.Leu127fs, NP_001369699.1:p.Leu127fs, NP_001369700.1:p.Leu127fs, NP_001369701.1:p.Leu127fs, NP_001369702.1:p.Leu127fs, XP_016856688.1:p.Leu127fs, XP_005245196.1:p.Leu127fs, XP_047275604.1:p.Leu106fs, XP_047275605.1:p.Leu106fs, XP_047275606.1:p.Leu106fs, XP_047275611.1:p.Leu127fs, XP_047275610.1:p.Leu127fs, XP_047275612.1:p.Leu127fs, XP_047275613.1:p.Leu127fs

                              15.

                              rs1467452017 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:154434576 (GRCh38)
                                1:154407052 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:154434575:G:A
                                Gene:
                                IL6R (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:

                                16.

                                rs1459634334 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  1:154429224 (GRCh38)
                                  1:154401700 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:154429223:G:A,NC_000001.11:154429223:G:T
                                  Gene:
                                  IL6R (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000054/1 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  T=0.000008/2 (TOPMED)
                                  A=0.000223/1 (Estonian)
                                  HGVS:
                                  NC_000001.11:g.154429224G>A, NC_000001.11:g.154429224G>T, NC_000001.10:g.154401700G>A, NC_000001.10:g.154401700G>T, NG_012087.1:g.29032G>A, NG_012087.1:g.29032G>T, NM_000565.4:c.114G>A, NM_000565.4:c.114G>T, NM_000565.3:c.114G>A, NM_000565.3:c.114G>T, NM_181359.3:c.114G>A, NM_181359.3:c.114G>T, NM_181359.2:c.114G>A, NM_181359.2:c.114G>T, NM_001206866.2:c.114G>A, NM_001206866.2:c.114G>T, NM_001206866.1:c.114G>A, NM_001206866.1:c.114G>T, NM_001382769.1:c.114G>A, NM_001382769.1:c.114G>T, NM_001382770.1:c.114G>A, NM_001382770.1:c.114G>T, NM_001382771.1:c.114G>A, NM_001382771.1:c.114G>T, NM_001382772.1:c.114G>A, NM_001382772.1:c.114G>T, NM_001382773.1:c.114G>A, NM_001382773.1:c.114G>T, NM_001382774.1:c.114G>A, NM_001382774.1:c.114G>T, XM_017001199.2:c.114G>A, XM_017001199.2:c.114G>T, XM_017001199.1:c.114G>A, XM_017001199.1:c.114G>T, XM_005245139.2:c.114G>A, XM_005245139.2:c.114G>T, XM_005245139.1:c.114G>A, XM_005245139.1:c.114G>T, XM_047419648.1:c.51G>A, XM_047419648.1:c.51G>T, XM_047419649.1:c.51G>A, XM_047419649.1:c.51G>T, XM_047419650.1:c.51G>A, XM_047419650.1:c.51G>T, XM_047419655.1:c.114G>A, XM_047419655.1:c.114G>T, XM_047419654.1:c.114G>A, XM_047419654.1:c.114G>T, XM_047419656.1:c.114G>A, XM_047419656.1:c.114G>T, XM_047419657.1:c.114G>A, XM_047419657.1:c.114G>T

                                  17.

                                  rs1455492560 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,T [Show Flanks]
                                    Chromosome:
                                    1:154429282 (GRCh38)
                                    1:154401758 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:154429281:G:A,NC_000001.11:154429281:G:T
                                    Gene:
                                    IL6R (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,intron_variant,missense_variant
                                    Clinical significance:
                                    uncertain-significance
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (GnomAD_exomes)
                                    T=0.000043/6 (GnomAD)
                                    HGVS:
                                    NC_000001.11:g.154429282G>A, NC_000001.11:g.154429282G>T, NC_000001.10:g.154401758G>A, NC_000001.10:g.154401758G>T, NG_012087.1:g.29090G>A, NG_012087.1:g.29090G>T, NM_000565.4:c.172G>A, NM_000565.4:c.172G>T, NM_000565.3:c.172G>A, NM_000565.3:c.172G>T, NM_181359.3:c.172G>A, NM_181359.3:c.172G>T, NM_181359.2:c.172G>A, NM_181359.2:c.172G>T, NM_001206866.2:c.172G>A, NM_001206866.2:c.172G>T, NM_001206866.1:c.172G>A, NM_001206866.1:c.172G>T, NM_001382769.1:c.172G>A, NM_001382769.1:c.172G>T, NM_001382770.1:c.172G>A, NM_001382770.1:c.172G>T, NM_001382771.1:c.172G>A, NM_001382771.1:c.172G>T, NM_001382772.1:c.172G>A, NM_001382772.1:c.172G>T, NM_001382773.1:c.172G>A, NM_001382773.1:c.172G>T, XM_017001199.2:c.172G>A, XM_017001199.2:c.172G>T, XM_017001199.1:c.172G>A, XM_017001199.1:c.172G>T, XM_005245139.2:c.172G>A, XM_005245139.2:c.172G>T, XM_005245139.1:c.172G>A, XM_005245139.1:c.172G>T, XM_047419648.1:c.109G>A, XM_047419648.1:c.109G>T, XM_047419649.1:c.109G>A, XM_047419649.1:c.109G>T, XM_047419650.1:c.109G>A, XM_047419650.1:c.109G>T, XM_047419655.1:c.172G>A, XM_047419655.1:c.172G>T, XM_047419654.1:c.172G>A, XM_047419654.1:c.172G>T, XM_047419656.1:c.172G>A, XM_047419656.1:c.172G>T, XM_047419657.1:c.172G>A, XM_047419657.1:c.172G>T, NP_000556.1:p.Val58Ile, NP_000556.1:p.Val58Phe, NP_852004.1:p.Val58Ile, NP_852004.1:p.Val58Phe, NP_001193795.1:p.Val58Ile, NP_001193795.1:p.Val58Phe, NP_001369698.1:p.Val58Ile, NP_001369698.1:p.Val58Phe, NP_001369699.1:p.Val58Ile, NP_001369699.1:p.Val58Phe, NP_001369700.1:p.Val58Ile, NP_001369700.1:p.Val58Phe, NP_001369701.1:p.Val58Ile, NP_001369701.1:p.Val58Phe, NP_001369702.1:p.Val58Ile, NP_001369702.1:p.Val58Phe, XP_016856688.1:p.Val58Ile, XP_016856688.1:p.Val58Phe, XP_005245196.1:p.Val58Ile, XP_005245196.1:p.Val58Phe, XP_047275604.1:p.Val37Ile, XP_047275604.1:p.Val37Phe, XP_047275605.1:p.Val37Ile, XP_047275605.1:p.Val37Phe, XP_047275606.1:p.Val37Ile, XP_047275606.1:p.Val37Phe, XP_047275611.1:p.Val58Ile, XP_047275611.1:p.Val58Phe, XP_047275610.1:p.Val58Ile, XP_047275610.1:p.Val58Phe, XP_047275612.1:p.Val58Ile, XP_047275612.1:p.Val58Phe, XP_047275613.1:p.Val58Ile, XP_047275613.1:p.Val58Phe

                                    18.

                                    rs1453682628 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:154435032 (GRCh38)
                                      1:154407508 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:154435031:C:T
                                      Gene:
                                      IL6R (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000001.11:g.154435032C>T, NC_000001.10:g.154407508C>T, NG_012087.1:g.34840C>T, NM_000565.4:c.683C>T, NM_000565.3:c.683C>T, NM_181359.3:c.683C>T, NM_181359.2:c.683C>T, NM_001206866.2:c.683C>T, NM_001206866.1:c.683C>T, NM_001382769.1:c.683C>T, NM_001382770.1:c.683C>T, NM_001382771.1:c.683C>T, NM_001382772.1:c.683C>T, NM_001382773.1:c.683C>T, NM_001382774.1:c.323C>T, XM_017001199.2:c.683C>T, XM_017001199.1:c.683C>T, XM_005245139.2:c.683C>T, XM_005245139.1:c.683C>T, XM_047419648.1:c.620C>T, XM_047419649.1:c.620C>T, XM_047419650.1:c.620C>T, XM_047419655.1:c.683C>T, XM_047419654.1:c.683C>T, XM_047419656.1:c.683C>T, XM_047419657.1:c.683C>T, NP_000556.1:p.Ala228Val, NP_852004.1:p.Ala228Val, NP_001193795.1:p.Ala228Val, NP_001369698.1:p.Ala228Val, NP_001369699.1:p.Ala228Val, NP_001369700.1:p.Ala228Val, NP_001369701.1:p.Ala228Val, NP_001369702.1:p.Ala228Val, NP_001369703.1:p.Ala108Val, XP_016856688.1:p.Ala228Val, XP_005245196.1:p.Ala228Val, XP_047275604.1:p.Ala207Val, XP_047275605.1:p.Ala207Val, XP_047275606.1:p.Ala207Val, XP_047275611.1:p.Ala228Val, XP_047275610.1:p.Ala228Val, XP_047275612.1:p.Ala228Val, XP_047275613.1:p.Ala228Val

                                      19.

                                      rs1452224653 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        1:154434617 (GRCh38)
                                        1:154407093 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:154434616:C:T
                                        Gene:
                                        IL6R (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000001.11:g.154434617C>T, NC_000001.10:g.154407093C>T, NG_012087.1:g.34425C>T, NM_000565.4:c.557C>T, NM_000565.3:c.557C>T, NM_181359.3:c.557C>T, NM_181359.2:c.557C>T, NM_001206866.2:c.557C>T, NM_001206866.1:c.557C>T, NM_001382769.1:c.557C>T, NM_001382770.1:c.557C>T, NM_001382771.1:c.557C>T, NM_001382772.1:c.557C>T, NM_001382773.1:c.557C>T, NM_001382774.1:c.197C>T, XM_017001199.2:c.557C>T, XM_017001199.1:c.557C>T, XM_005245139.2:c.557C>T, XM_005245139.1:c.557C>T, XM_047419648.1:c.494C>T, XM_047419649.1:c.494C>T, XM_047419650.1:c.494C>T, XM_047419655.1:c.557C>T, XM_047419654.1:c.557C>T, XM_047419656.1:c.557C>T, XM_047419657.1:c.557C>T, NP_000556.1:p.Ser186Phe, NP_852004.1:p.Ser186Phe, NP_001193795.1:p.Ser186Phe, NP_001369698.1:p.Ser186Phe, NP_001369699.1:p.Ser186Phe, NP_001369700.1:p.Ser186Phe, NP_001369701.1:p.Ser186Phe, NP_001369702.1:p.Ser186Phe, NP_001369703.1:p.Ser66Phe, XP_016856688.1:p.Ser186Phe, XP_005245196.1:p.Ser186Phe, XP_047275604.1:p.Ser165Phe, XP_047275605.1:p.Ser165Phe, XP_047275606.1:p.Ser165Phe, XP_047275611.1:p.Ser186Phe, XP_047275610.1:p.Ser186Phe, XP_047275612.1:p.Ser186Phe, XP_047275613.1:p.Ser186Phe

                                        20.

                                        rs1448608451 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          1:154430537 (GRCh38)
                                          1:154403013 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:154430536:T:C
                                          Gene:
                                          IL6R (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (GnomAD_exomes)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000001.11:g.154430537T>C, NC_000001.10:g.154403013T>C, NG_012087.1:g.30345T>C, NM_000565.4:c.389T>C, NM_000565.3:c.389T>C, NM_181359.3:c.389T>C, NM_181359.2:c.389T>C, NM_001206866.2:c.389T>C, NM_001206866.1:c.389T>C, NM_001382769.1:c.389T>C, NM_001382770.1:c.389T>C, NM_001382771.1:c.389T>C, NM_001382772.1:c.389T>C, NM_001382773.1:c.389T>C, XM_017001199.2:c.389T>C, XM_017001199.1:c.389T>C, XM_005245139.2:c.389T>C, XM_005245139.1:c.389T>C, XM_047419648.1:c.326T>C, XM_047419649.1:c.326T>C, XM_047419650.1:c.326T>C, XM_047419655.1:c.389T>C, XM_047419654.1:c.389T>C, XM_047419656.1:c.389T>C, XM_047419657.1:c.389T>C, NP_000556.1:p.Val130Ala, NP_852004.1:p.Val130Ala, NP_001193795.1:p.Val130Ala, NP_001369698.1:p.Val130Ala, NP_001369699.1:p.Val130Ala, NP_001369700.1:p.Val130Ala, NP_001369701.1:p.Val130Ala, NP_001369702.1:p.Val130Ala, XP_016856688.1:p.Val130Ala, XP_005245196.1:p.Val130Ala, XP_047275604.1:p.Val109Ala, XP_047275605.1:p.Val109Ala, XP_047275606.1:p.Val109Ala, XP_047275611.1:p.Val130Ala, XP_047275610.1:p.Val130Ala, XP_047275612.1:p.Val130Ala, XP_047275613.1:p.Val130Ala

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