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Items: 1 to 20 of 33

1.

rs1461531709 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    11:107707845 (GRCh38)
    11:107578571 (GRCh37)
    Canonical SPDI:
    NC_000011.10:107707844:T:C
    Gene:
    SLN (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_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:
    2.

    rs1405092472 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      11:107707848 (GRCh38)
      11:107578574 (GRCh37)
      Canonical SPDI:
      NC_000011.10:107707847:G:A
      Gene:
      SLN (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1396908635 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        11:107707838 (GRCh38)
        11:107578564 (GRCh37)
        Canonical SPDI:
        NC_000011.10:107707837:G:A
        Gene:
        SLN (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1357402497 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          11:107707893 (GRCh38)
          11:107578619 (GRCh37)
          Canonical SPDI:
          NC_000011.10:107707892:G:A
          Gene:
          SLN (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          A=0.000007/1 (GnomAD)
          A=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1318713028 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            11:107707872 (GRCh38)
            11:107578598 (GRCh37)
            Canonical SPDI:
            NC_000011.10:107707871:A:G
            Gene:
            SLN (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0.000111/1 (ALFA)
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1282664936 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G,T [Show Flanks]
              Chromosome:
              11:107707892 (GRCh38)
              11:107578618 (GRCh37)
              Canonical SPDI:
              NC_000011.10:107707891:A:G,NC_000011.10:107707891:A:T
              Gene:
              SLN (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by cluster
              MAF:
              T=0.000008/2 (GnomAD_exomes)
              HGVS:
              7.

              rs1277817521 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                11:107707925 (GRCh38)
                11:107578651 (GRCh37)
                Canonical SPDI:
                NC_000011.10:107707924:C:A,NC_000011.10:107707924:C:T
                Gene:
                SLN (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.00003/1 (ALFA)
                HGVS:
                8.

                rs1243737015 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  11:107707903 (GRCh38)
                  11:107578629 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:107707902:G:A
                  Gene:
                  SLN (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1162318094 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    11:107707862 (GRCh38)
                    11:107578588 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:107707861:C:G
                    Gene:
                    SLN (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs948596972 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      11:107707909 (GRCh38)
                      11:107578635 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:107707908:G:C
                      Gene:
                      SLN (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      HGVS:
                      11.

                      rs939920966 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        11:107707859 (GRCh38)
                        11:107578585 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:107707858:G:A,NC_000011.10:107707858:G:T
                        Gene:
                        SLN (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000142/2 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        A=0.000011/3 (TOPMED)
                        A=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs888314727 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          11:107707847 (GRCh38)
                          11:107578573 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:107707846:G:C
                          Gene:
                          SLN (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs868456277 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            11:107707912 (GRCh38)
                            11:107578638 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:107707911:C:G,NC_000011.10:107707911:C:T
                            Gene:
                            SLN (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs780287040 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              11:107707877 (GRCh38)
                              11:107578603 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:107707876:C:G,NC_000011.10:107707876:C:T
                              Gene:
                              SLN (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000066/1 (ALFA)
                              T=0.000012/3 (GnomAD_exomes)
                              T=0.000014/2 (GnomAD)
                              T=0.000016/2 (ExAC)
                              T=0.000223/1 (Estonian)
                              G=0.002183/4 (Korea1K)
                              HGVS:
                              15.

                              rs778560990 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                11:107707851 (GRCh38)
                                11:107578577 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:107707850:C:G
                                Gene:
                                SLN (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                G=0.000008/1 (ExAC)
                                HGVS:
                                16.

                                rs777875373 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  G>- [Show Flanks]
                                  Chromosome:
                                  11:107707838 (GRCh38)
                                  11:107578564 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:107707837:G:
                                  Gene:
                                  SLN (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,frameshift_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  -=0.000004/1 (GnomAD_exomes)
                                  -=0.000008/1 (ExAC)
                                  HGVS:
                                  17.

                                  rs777478436 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->A [Show Flanks]
                                    Chromosome:
                                    11:107707922 (GRCh38)
                                    11:107578649 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:107707922:A:AA
                                    Gene:
                                    SLN (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,frameshift_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AA=0./0 (ALFA)
                                    A=0./0 (ALSPAC)
                                    A=0.000004/1 (TOPMED)
                                    A=0.00027/1 (TWINSUK)
                                    HGVS:
                                    18.

                                    rs777133080 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      11:107707895 (GRCh38)
                                      11:107578621 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:107707894:G:T
                                      Gene:
                                      SLN (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      T=0.000008/2 (GnomAD_exomes)
                                      T=0.000016/2 (ExAC)
                                      HGVS:
                                      19.

                                      rs773423050 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        11:107707907 (GRCh38)
                                        11:107578633 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:107707906:C:G
                                        Gene:
                                        SLN (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000024/6 (GnomAD_exomes)
                                        G=0.000035/1 (TOMMO)
                                        G=0.000041/5 (ExAC)
                                        G=0.000342/1 (KOREAN)
                                        HGVS:
                                        20.

                                        rs770387210 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          11:107707900 (GRCh38)
                                          11:107578626 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:107707899:T:G
                                          Gene:
                                          SLN (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          G=0.000008/1 (ExAC)
                                          HGVS:

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