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Items: 1 to 20 of 2258

1.

rs1490926759 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    17:63696798 (GRCh38)
    17:61774158 (GRCh37)
    Canonical SPDI:
    NC_000017.11:63696797:C:G,NC_000017.11:63696797:C:T
    Gene:
    MAP3K3 (Varview), LIMD2 (Varview)
    Functional Consequence:
    downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000021/3 (GnomAD)
    HGVS:

    2.

    rs1490666517 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->G [Show Flanks]
      Chromosome:
      17:63698097 (GRCh38)
      17:61775458 (GRCh37)
      Canonical SPDI:
      NC_000017.11:63698097:G:GG
      Gene:
      LIMD2 (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GG=0.000071/1 (ALFA)
      G=0.000007/1 (GnomAD)
      G=0.000019/5 (TOPMED)
      HGVS:

      3.

      rs1490394828 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        17:63702936 (GRCh38)
        17:61780296 (GRCh37)
        Canonical SPDI:
        NC_000017.11:63702935:A:G
        Gene:
        LIMD2 (Varview), STRADA (Varview), LOC729683 (Varview)
        Functional Consequence:
        downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000008/2 (TOPMED)
        HGVS:
        NC_000017.11:g.63702936A>G, NC_000017.10:g.61780296A>G, NG_015817.1:g.44035T>C, NM_153335.6:c.*1347T>C, NM_153335.5:c.*1347T>C, NM_001003787.4:c.*663T>C, NM_001003787.3:c.*663T>C, NM_001003787.2:c.*663T>C, NM_001003788.3:c.*663T>C, NM_001003788.2:c.*663T>C, NM_001003786.3:c.*663T>C, NM_001003786.2:c.*663T>C, NM_001165969.2:c.*836T>C, NM_001165969.1:c.*836T>C, NM_001165970.2:c.*836T>C, NM_001165970.1:c.*836T>C, NR_156741.2:n.1890T>C, NR_156741.1:n.2077T>C, NM_001363786.1:c.*663T>C, NM_001363787.1:c.*663T>C, NM_001363788.1:c.*836T>C, NM_001363791.1:c.*836T>C, NM_001363790.1:c.*748T>C, NM_001363789.1:c.*836T>C, XM_011525466.4:c.*704T>C, XM_011525466.3:c.*704T>C, XM_011525466.2:c.*704T>C, XM_011525466.1:c.*704T>C, XM_047437052.1:c.*663T>C, NM_001411083.1:c.*1943T>C, NM_001411084.1:c.*1943T>C, NM_001411085.1:c.*1954T>C, XM_047437053.1:c.*704T>C, XM_047437055.1:c.*704T>C, XM_047437054.1:c.*663T>C

        4.

        rs1490287890 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,G,T [Show Flanks]
          Chromosome:
          17:63703070 (GRCh38)
          17:61780430 (GRCh37)
          Canonical SPDI:
          NC_000017.11:63703069:C:A,NC_000017.11:63703069:C:G,NC_000017.11:63703069:C:T
          Gene:
          LIMD2 (Varview), STRADA (Varview), LOC729683 (Varview)
          Functional Consequence:
          downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          T=0.00006/1 (TOMMO)
          HGVS:
          NC_000017.11:g.63703070C>A, NC_000017.11:g.63703070C>G, NC_000017.11:g.63703070C>T, NC_000017.10:g.61780430C>A, NC_000017.10:g.61780430C>G, NC_000017.10:g.61780430C>T, NG_015817.1:g.43901G>T, NG_015817.1:g.43901G>C, NG_015817.1:g.43901G>A, NM_153335.6:c.*1213G>T, NM_153335.6:c.*1213G>C, NM_153335.6:c.*1213G>A, NM_153335.5:c.*1213G>T, NM_153335.5:c.*1213G>C, NM_153335.5:c.*1213G>A, NM_001003787.4:c.*529G>T, NM_001003787.4:c.*529G>C, NM_001003787.4:c.*529G>A, NM_001003787.3:c.*529G>T, NM_001003787.3:c.*529G>C, NM_001003787.3:c.*529G>A, NM_001003787.2:c.*529G>T, NM_001003787.2:c.*529G>C, NM_001003787.2:c.*529G>A, NM_001003788.3:c.*529G>T, NM_001003788.3:c.*529G>C, NM_001003788.3:c.*529G>A, NM_001003788.2:c.*529G>T, NM_001003788.2:c.*529G>C, NM_001003788.2:c.*529G>A, NM_001003786.3:c.*529G>T, NM_001003786.3:c.*529G>C, NM_001003786.3:c.*529G>A, NM_001003786.2:c.*529G>T, NM_001003786.2:c.*529G>C, NM_001003786.2:c.*529G>A, NM_001165969.2:c.*702G>T, NM_001165969.2:c.*702G>C, NM_001165969.2:c.*702G>A, NM_001165969.1:c.*702G>T, NM_001165969.1:c.*702G>C, NM_001165969.1:c.*702G>A, NM_001165970.2:c.*702G>T, NM_001165970.2:c.*702G>C, NM_001165970.2:c.*702G>A, NM_001165970.1:c.*702G>T, NM_001165970.1:c.*702G>C, NM_001165970.1:c.*702G>A, NR_156741.2:n.1756G>T, NR_156741.2:n.1756G>C, NR_156741.2:n.1756G>A, NR_156741.1:n.1943G>T, NR_156741.1:n.1943G>C, NR_156741.1:n.1943G>A, NM_001363786.1:c.*529G>T, NM_001363786.1:c.*529G>C, NM_001363786.1:c.*529G>A, NM_001363787.1:c.*529G>T, NM_001363787.1:c.*529G>C, NM_001363787.1:c.*529G>A, NM_001363788.1:c.*702G>T, NM_001363788.1:c.*702G>C, NM_001363788.1:c.*702G>A, NM_001363791.1:c.*702G>T, NM_001363791.1:c.*702G>C, NM_001363791.1:c.*702G>A, NM_001363790.1:c.*614G>T, NM_001363790.1:c.*614G>C, NM_001363790.1:c.*614G>A, NM_001363789.1:c.*702G>T, NM_001363789.1:c.*702G>C, NM_001363789.1:c.*702G>A, XM_011525466.4:c.*570G>T, XM_011525466.4:c.*570G>C, XM_011525466.4:c.*570G>A, XM_011525466.3:c.*570G>T, XM_011525466.3:c.*570G>C, XM_011525466.3:c.*570G>A, XM_011525466.2:c.*570G>T, XM_011525466.2:c.*570G>C, XM_011525466.2:c.*570G>A, XM_011525466.1:c.*570G>T, XM_011525466.1:c.*570G>C, XM_011525466.1:c.*570G>A, XM_047437052.1:c.*529G>T, XM_047437052.1:c.*529G>C, XM_047437052.1:c.*529G>A, NM_001411083.1:c.*1809G>T, NM_001411083.1:c.*1809G>C, NM_001411083.1:c.*1809G>A, NM_001411084.1:c.*1809G>T, NM_001411084.1:c.*1809G>C, NM_001411084.1:c.*1809G>A, NM_001411085.1:c.*1820G>T, NM_001411085.1:c.*1820G>C, NM_001411085.1:c.*1820G>A, XM_047437053.1:c.*570G>T, XM_047437053.1:c.*570G>C, XM_047437053.1:c.*570G>A, XM_047437055.1:c.*570G>T, XM_047437055.1:c.*570G>C, XM_047437055.1:c.*570G>A, XM_047437054.1:c.*529G>T, XM_047437054.1:c.*529G>C, XM_047437054.1:c.*529G>A

          5.

          rs1489847406 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            17:63697160 (GRCh38)
            17:61774520 (GRCh37)
            Canonical SPDI:
            NC_000017.11:63697159:C:T
            Gene:
            LIMD2 (Varview)
            Functional Consequence:
            3_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0.0002/1 (ALFA)
            T=0.0002/1 (Estonian)
            HGVS:

            6.

            rs1489821664 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              17:63699364 (GRCh38)
              17:61776724 (GRCh37)
              Canonical SPDI:
              NC_000017.11:63699363:A:G
              Gene:
              LIMD2 (Varview), LOC729683 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              G=0.000008/2 (TOPMED)
              HGVS:

              7.

              rs1489527851 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C,G [Show Flanks]
                Chromosome:
                17:63701601 (GRCh38)
                17:61778961 (GRCh37)
                Canonical SPDI:
                NC_000017.11:63701600:A:C,NC_000017.11:63701600:A:G
                Gene:
                LIMD2 (Varview), LOC729683 (Varview)
                Functional Consequence:
                2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.000224/1 (ALFA)
                G=0.000007/1 (GnomAD)
                G=0.000223/1 (Estonian)
                A=0.5/1 (SGDP_PRJ)
                HGVS:

                8.

                rs1488629448 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  17:63699220 (GRCh38)
                  17:61776580 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:63699219:C:A
                  Gene:
                  LIMD2 (Varview), LOC729683 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:

                  9.

                  rs1488548808 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    17:63702406 (GRCh38)
                    17:61779766 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:63702405:A:G
                    Gene:
                    LIMD2 (Varview), STRADA (Varview), LOC729683 (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000224/1 (ALFA)
                    G=0.000007/1 (GnomAD)
                    G=0.000223/1 (Estonian)
                    HGVS:

                    10.

                    rs1488112886 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,G,T [Show Flanks]
                      Chromosome:
                      17:63698621 (GRCh38)
                      17:61775981 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:63698620:C:A,NC_000017.11:63698620:C:G,NC_000017.11:63698620:C:T
                      Gene:
                      LIMD2 (Varview), LOC729683 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000051/1 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      T=0.000004/1 (TOPMED)
                      G=0.000156/1 (1000Genomes)
                      HGVS:
                      NC_000017.11:g.63698621C>A, NC_000017.11:g.63698621C>G, NC_000017.11:g.63698621C>T, NC_000017.10:g.61775981C>A, NC_000017.10:g.61775981C>G, NC_000017.10:g.61775981C>T, XM_005257705.5:c.315G>T, XM_005257705.5:c.315G>C, XM_005257705.5:c.315G>A, XM_005257705.4:c.315G>T, XM_005257705.4:c.315G>C, XM_005257705.4:c.315G>A, XM_005257705.3:c.315G>T, XM_005257705.3:c.315G>C, XM_005257705.3:c.315G>A, XM_005257705.2:c.315G>T, XM_005257705.2:c.315G>C, XM_005257705.2:c.315G>A, XM_005257705.1:c.315G>T, XM_005257705.1:c.315G>C, XM_005257705.1:c.315G>A, NM_030576.4:c.315G>T, NM_030576.4:c.315G>C, NM_030576.4:c.315G>A, NM_030576.3:c.315G>T, NM_030576.3:c.315G>C, NM_030576.3:c.315G>A, XM_006722124.3:c.315G>T, XM_006722124.3:c.315G>C, XM_006722124.3:c.315G>A, XM_006722124.2:c.315G>T, XM_006722124.2:c.315G>C, XM_006722124.2:c.315G>A, XM_006722124.1:c.315G>T, XM_006722124.1:c.315G>C, XM_006722124.1:c.315G>A, XM_005257703.2:c.315G>T, XM_005257703.2:c.315G>C, XM_005257703.2:c.315G>A, XM_005257703.1:c.315G>T, XM_005257703.1:c.315G>C, XM_005257703.1:c.315G>A, XM_047436853.1:c.315G>T, XM_047436853.1:c.315G>C, XM_047436853.1:c.315G>A

                      11.

                      rs1487804058 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        17:63697107 (GRCh38)
                        17:61774467 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:63697106:G:C
                        Gene:
                        LIMD2 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:

                        12.

                        rs1487651089 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          17:63698750 (GRCh38)
                          17:61776110 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:63698749:C:G
                          Gene:
                          LIMD2 (Varview), LOC729683 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000008/1 (GnomAD)
                          HGVS:

                          13.

                          rs1487627264 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            17:63698694 (GRCh38)
                            17:61776054 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:63698693:G:A,NC_000017.11:63698693:G:T
                            Gene:
                            LIMD2 (Varview), LOC729683 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000051/1 (ALFA)
                            T=0.000007/1 (GnomAD)
                            A=0.000008/2 (GnomAD_exomes)
                            HGVS:
                            NC_000017.11:g.63698694G>A, NC_000017.11:g.63698694G>T, NC_000017.10:g.61776054G>A, NC_000017.10:g.61776054G>T, XM_005257705.5:c.242C>T, XM_005257705.5:c.242C>A, XM_005257705.4:c.242C>T, XM_005257705.4:c.242C>A, XM_005257705.3:c.242C>T, XM_005257705.3:c.242C>A, XM_005257705.2:c.242C>T, XM_005257705.2:c.242C>A, XM_005257705.1:c.242C>T, XM_005257705.1:c.242C>A, NM_030576.4:c.242C>T, NM_030576.4:c.242C>A, NM_030576.3:c.242C>T, NM_030576.3:c.242C>A, XM_006722124.3:c.242C>T, XM_006722124.3:c.242C>A, XM_006722124.2:c.242C>T, XM_006722124.2:c.242C>A, XM_006722124.1:c.242C>T, XM_006722124.1:c.242C>A, XM_005257703.2:c.242C>T, XM_005257703.2:c.242C>A, XM_005257703.1:c.242C>T, XM_005257703.1:c.242C>A, XM_047436853.1:c.242C>T, XM_047436853.1:c.242C>A, XP_005257762.1:p.Ala81Val, XP_005257762.1:p.Ala81Glu, NP_085053.1:p.Ala81Val, NP_085053.1:p.Ala81Glu, XP_006722187.1:p.Ala81Val, XP_006722187.1:p.Ala81Glu, XP_005257760.1:p.Ala81Val, XP_005257760.1:p.Ala81Glu, XP_047292809.1:p.Ala81Val, XP_047292809.1:p.Ala81Glu

                            14.

                            rs1487378806 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              17:63698278 (GRCh38)
                              17:61775638 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:63698277:C:G
                              Gene:
                              LIMD2 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0.00164/23 (ALFA)
                              HGVS:

                              15.

                              rs1487160013 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                17:63699811 (GRCh38)
                                17:61777171 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:63699810:G:A,NC_000017.11:63699810:G:C
                                Gene:
                                LIMD2 (Varview), LOC729683 (Varview)
                                Functional Consequence:
                                5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000071/1 (ALFA)
                                A=0.000016/2 (GnomAD)
                                HGVS:

                                16.

                                rs1486958937 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  17:63696443 (GRCh38)
                                  17:61773803 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:63696442:C:T
                                  Gene:
                                  MAP3K3 (Varview), LIMD2 (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  T=0.0011/2 (Korea1K)
                                  HGVS:

                                  17.

                                  rs1485690205 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    17:63702360 (GRCh38)
                                    17:61779720 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:63702359:G:A
                                    Gene:
                                    LIMD2 (Varview), STRADA (Varview), LOC729683 (Varview)
                                    Functional Consequence:
                                    downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000011/3 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1485410654 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,T [Show Flanks]
                                      Chromosome:
                                      17:63699108 (GRCh38)
                                      17:61776468 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:63699107:G:A,NC_000017.11:63699107:G:T
                                      Gene:
                                      LIMD2 (Varview), LOC729683 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1485257345 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->CC [Show Flanks]
                                        Chromosome:
                                        17:63698499 (GRCh38)
                                        17:61775860 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:63698499:CCCCC:CCCCCCC
                                        Gene:
                                        LIMD2 (Varview), LOC729683 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
                                        HGVS:

                                        20.

                                        rs1485063884 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,T [Show Flanks]
                                          Chromosome:
                                          17:63697465 (GRCh38)
                                          17:61774825 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:63697464:C:A,NC_000017.11:63697464:C:T
                                          Gene:
                                          LIMD2 (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:

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