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Links from Gene

Items: 1 to 20 of 3712

1.

rs1491338522 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    14:77383977 (GRCh38)
    14:77850320 (GRCh37)
    Canonical SPDI:
    NC_000014.9:77383976:CA:
    Gene:
    SAMD15 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    HGVS:
    2.

    rs1491002523 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      14:77389819 (GRCh38)
      14:77856162 (GRCh37)
      Canonical SPDI:
      NC_000014.9:77389818:C:T
      Gene:
      SAMD15 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1490983379 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        14:77387699 (GRCh38)
        14:77854042 (GRCh37)
        Canonical SPDI:
        NC_000014.9:77387698:G:C
        Gene:
        SAMD15 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000224/1 (ALFA)
        C=0.000007/1 (GnomAD)
        C=0.000223/1 (Estonian)
        HGVS:
        4.

        rs1490862730 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          14:77389028 (GRCh38)
          14:77855371 (GRCh37)
          Canonical SPDI:
          NC_000014.9:77389027:A:G
          Gene:
          SAMD15 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000008/2 (TOPMED)
          G=0.000014/2 (GnomAD)
          G=0.000177/3 (TOMMO)
          HGVS:
          5.

          rs1490798006 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            14:77381826 (GRCh38)
            14:77848169 (GRCh37)
            Canonical SPDI:
            NC_000014.9:77381825:G:A
            Gene:
            SAMD15 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490650908 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              14:77379991 (GRCh38)
              14:77846334 (GRCh37)
              Canonical SPDI:
              NC_000014.9:77379990:T:C
              Gene:
              SAMD15 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1490617429 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                14:77379781 (GRCh38)
                14:77846124 (GRCh37)
                Canonical SPDI:
                NC_000014.9:77379780:C:G,NC_000014.9:77379780:C:T
                Gene:
                SAMD15 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by cluster
                HGVS:
                8.

                rs1490517990 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  14:77378995 (GRCh38)
                  14:77845338 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:77378994:A:G
                  Gene:
                  SAMD15 (Varview), TMED8 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490320944 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    14:77381098 (GRCh38)
                    14:77847441 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:77381097:C:T
                    Gene:
                    SAMD15 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000015/4 (TOPMED)
                    HGVS:
                    10.

                    rs1490243232 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      14:77378021 (GRCh38)
                      14:77844364 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:77378020:T:G
                      Gene:
                      SAMD15 (Varview), TMED8 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1489678880 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        14:77391022 (GRCh38)
                        14:77857365 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:77391021:T:C
                        Gene:
                        SAMD15 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1489309893 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          14:77380466 (GRCh38)
                          14:77846809 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:77380465:C:G,NC_000014.9:77380465:C:T
                          Gene:
                          SAMD15 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          G=0.000008/2 (TOPMED)
                          T=0.001638/3 (Korea1K)
                          T=0.001711/5 (KOREAN)
                          HGVS:
                          13.

                          rs1489258521 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            14:77391490 (GRCh38)
                            14:77857833 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:77391489:G:A,NC_000014.9:77391489:G:C
                            Gene:
                            SAMD15 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1489144054 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              14:77383721 (GRCh38)
                              14:77850064 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:77383720:C:G,NC_000014.9:77383720:C:T
                              Gene:
                              SAMD15 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000011/3 (TOPMED)
                              G=0.000156/1 (1000Genomes)
                              HGVS:
                              15.

                              rs1488924951 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                14:77390926 (GRCh38)
                                14:77857269 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:77390925:G:C
                                Gene:
                                SAMD15 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000071/1 (ALFA)
                                C=0.000019/5 (TOPMED)
                                C=0.000021/3 (GnomAD)
                                HGVS:
                                16.

                                rs1488669284 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  14:77386824 (GRCh38)
                                  14:77853167 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:77386823:T:C
                                  Gene:
                                  SAMD15 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1488561018 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    14:77381703 (GRCh38)
                                    14:77848046 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:77381702:C:T
                                    Gene:
                                    SAMD15 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1488525365 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      14:77382736 (GRCh38)
                                      14:77849079 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:77382735:G:A
                                      Gene:
                                      SAMD15 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000008/2 (TOPMED)
                                      A=0.001027/3 (KOREAN)
                                      HGVS:
                                      19.

                                      rs1488444827 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        14:77391210 (GRCh38)
                                        14:77857553 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:77391209:A:G
                                        Gene:
                                        SAMD15 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1488350934 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          14:77382407 (GRCh38)
                                          14:77848750 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:77382406:G:A,NC_000014.9:77382406:G:C
                                          Gene:
                                          SAMD15 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:

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