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Items: 1 to 20 of 142

1.

rs1484327222 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A,C,G [Show Flanks]
    Chromosome:
    13:49928062 (GRCh38)
    13:50502198 (GRCh37)
    Canonical SPDI:
    NC_000013.11:49928061:T:A,NC_000013.11:49928061:T:C,NC_000013.11:49928061:T:G
    Gene:
    SPRYD7 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    G=0.000004/1 (GnomAD_exomes)
    A=0.000015/4 (TOPMED)
    A=0.00005/7 (GnomAD)
    HGVS:
    NC_000013.11:g.49928062T>A, NC_000013.11:g.49928062T>C, NC_000013.11:g.49928062T>G, NC_000013.10:g.50502198T>A, NC_000013.10:g.50502198T>C, NC_000013.10:g.50502198T>G, NM_020456.4:c.247A>T, NM_020456.4:c.247A>G, NM_020456.4:c.247A>C, NM_020456.3:c.247A>T, NM_020456.3:c.247A>G, NM_020456.3:c.247A>C, NM_020456.2:c.247A>T, NM_020456.2:c.247A>G, NM_020456.2:c.247A>C, NM_001127482.3:c.130A>T, NM_001127482.3:c.130A>G, NM_001127482.3:c.130A>C, NM_001127482.2:c.130A>T, NM_001127482.2:c.130A>G, NM_001127482.2:c.130A>C, NM_001127482.1:c.130A>T, NM_001127482.1:c.130A>G, NM_001127482.1:c.130A>C, XR_007063693.1:n.352A>T, XR_007063693.1:n.352A>G, XR_007063693.1:n.352A>C, XR_007063694.1:n.235A>T, XR_007063694.1:n.235A>G, XR_007063694.1:n.235A>C, NP_065189.1:p.Thr83Ser, NP_065189.1:p.Thr83Ala, NP_065189.1:p.Thr83Pro, NP_001120954.1:p.Thr44Ser, NP_001120954.1:p.Thr44Ala, NP_001120954.1:p.Thr44Pro

    2.

    rs1469331211 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      13:49921548 (GRCh38)
      13:50495684 (GRCh37)
      Canonical SPDI:
      NC_000013.11:49921547:T:A
      Gene:
      SPRYD7 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:

      3.

      rs1458777469 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        13:49915120 (GRCh38)
        13:50489256 (GRCh37)
        Canonical SPDI:
        NC_000013.11:49915119:A:T
        Gene:
        SPRYD7 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.0002/1 (ALFA)
        T=0.0002/1 (Estonian)
        HGVS:

        4.

        rs1455808810 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          13:49936193 (GRCh38)
          13:50510329 (GRCh37)
          Canonical SPDI:
          NC_000013.11:49936192:C:A
          Gene:
          SPRYD7 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:

          5.

          rs1447745656 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAC>- [Show Flanks]
            Chromosome:
            13:49921485 (GRCh38)
            13:50495621 (GRCh37)
            Canonical SPDI:
            NC_000013.11:49921481:AACAAC:AAC
            Gene:
            SPRYD7 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,inframe_deletion,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AACAAC=0.000071/1 (ALFA)
            -=0.000007/1 (GnomAD)
            HGVS:

            6.

            rs1445970900 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              13:49936181 (GRCh38)
              13:50510317 (GRCh37)
              Canonical SPDI:
              NC_000013.11:49936180:G:A
              Gene:
              SPRYD7 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,missense_variant,coding_sequence_variant
              HGVS:

              7.

              rs1445501186 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                13:49921534 (GRCh38)
                13:50495670 (GRCh37)
                Canonical SPDI:
                NC_000013.11:49921533:T:C
                Gene:
                SPRYD7 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000014/2 (GnomAD)
                HGVS:

                8.

                rs1427374533 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  13:49915112 (GRCh38)
                  13:50489248 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:49915111:G:A
                  Gene:
                  SPRYD7 (Varview)
                  Functional Consequence:
                  missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  A=0.000026/7 (TOPMED)
                  HGVS:

                  9.

                  rs1413549288 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    13:49927931 (GRCh38)
                    13:50502067 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:49927930:T:A
                    Gene:
                    SPRYD7 (Varview)
                    Functional Consequence:
                    intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    HGVS:

                    10.

                    rs1390123924 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      13:49927924 (GRCh38)
                      13:50502060 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:49927923:C:T
                      Gene:
                      SPRYD7 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1389528532 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        13:49921562 (GRCh38)
                        13:50495698 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:49921561:C:A
                        Gene:
                        SPRYD7 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:

                        12.

                        rs1383944597 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          13:49936134 (GRCh38)
                          13:50510270 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:49936133:G:C
                          Gene:
                          SPRYD7 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:

                          13.

                          rs1383885190 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            13:49936191 (GRCh38)
                            13:50510327 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:49936190:C:G
                            Gene:
                            SPRYD7 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:

                            14.

                            rs1383874576 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              13:49936213 (GRCh38)
                              13:50510349 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:49936212:C:T
                              Gene:
                              SPRYD7 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              T=0.000004/1 (TOPMED)
                              HGVS:

                              15.

                              rs1368157724 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                C>- [Show Flanks]
                                Chromosome:
                                13:49921579 (GRCh38)
                                13:50495715 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:49921578:CCC:CC
                                Gene:
                                SPRYD7 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,splice_acceptor_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CC=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                -=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1367349994 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  13:49928059 (GRCh38)
                                  13:50502195 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:49928058:G:C
                                  Gene:
                                  SPRYD7 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.000028/1 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1365978127 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    13:49927981 (GRCh38)
                                    13:50502117 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:49927980:G:A
                                    Gene:
                                    SPRYD7 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:

                                    18.

                                    rs1359617492 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      13:49936220 (GRCh38)
                                      13:50510356 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:49936219:A:G
                                      Gene:
                                      SPRYD7 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1357383744 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        13:49915078 (GRCh38)
                                        13:50489214 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:49915077:T:G
                                        Gene:
                                        SPRYD7 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:

                                        20.

                                        rs1352560090 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C,G [Show Flanks]
                                          Chromosome:
                                          13:49915133 (GRCh38)
                                          13:50489269 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:49915132:T:C,NC_000013.11:49915132:T:G
                                          Gene:
                                          SPRYD7 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          C=0.00004/1 (TOMMO)
                                          HGVS:

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