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Items: 1 to 20 of 1000

1.

rs1491506906 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    ->TGCA
    Chromosome:
    no mapping
    Canonical SPDI:

    2.

    rs1491481225 has merged into rs1283172689 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CA>-,CACA [Show Flanks]
      Chromosome:
      2:17727538 (GRCh38)
      2:17908805 (GRCh37)
      Canonical SPDI:
      NC_000002.12:17727526:ACACACACACACA:ACACACACACA,NC_000002.12:17727526:ACACACACACACA:ACACACACACACACA
      Gene:
      SMC6 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      ACACACACACACACA=0./0 (ALFA)
      HGVS:

      3.

      rs1491448659 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AA>- [Show Flanks]
        Chromosome:
        2:17708836 (GRCh38)
        2:17890103 (GRCh37)
        Canonical SPDI:
        NC_000002.12:17708835:AA:
        Gene:
        SMC6 (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0.00162/30 (ALFA)
        -=0.000937/6 (1000Genomes)
        -=0.001516/211 (GnomAD)
        -=0.001572/416 (TOPMED)
        -=0.002004/2 (GoNL)
        -=0.038333/23 (NorthernSweden)
        HGVS:

        4.

        rs1491445002 has merged into rs1459655001 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AT>-,ATAT [Show Flanks]
          Chromosome:
          2:17731624 (GRCh38)
          2:17912891 (GRCh37)
          Canonical SPDI:
          NC_000002.12:17731614:TATATATATAT:TATATATAT,NC_000002.12:17731614:TATATATATAT:TATATATATATAT
          Gene:
          SMC6 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TATATATATATAT=0.000108/2 (ALFA)
          -=0.000072/19 (TOPMED)
          HGVS:

          5.

          rs1491432530 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CA>- [Show Flanks]
            Chromosome:
            2:17671608 (GRCh38)
            2:17852875 (GRCh37)
            Canonical SPDI:
            NC_000002.12:17671607:CA:
            Gene:
            SMC6 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0.04122/489 (ALFA)
            -=0.00138/39 (TOMMO)
            HGVS:

            6.

            rs1491419205 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->C,TAAAAAAA [Show Flanks]
              Chromosome:
              2:17726087 (GRCh38)
              2:17907355 (GRCh37)
              Canonical SPDI:
              NC_000002.12:17726087::C,NC_000002.12:17726087::TAAAAAAA
              Gene:
              SMC6 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              TAAAAAAA=0.000038/2 (GnomAD)
              HGVS:

              7.

              rs1491327475 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                TA>- [Show Flanks]
                Chromosome:
                2:17726087 (GRCh38)
                2:17907354 (GRCh37)
                Canonical SPDI:
                NC_000002.12:17726086:TA:
                Gene:
                SMC6 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0.00059/7 (ALFA)
                -=0.00003/1 (GnomAD)
                HGVS:

                8.

                rs1491315087 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->CA [Show Flanks]
                  Chromosome:
                  2:17751468 (GRCh38)
                  2:17932736 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:17751468:A:ACA
                  Gene:
                  SMC6 (Varview), GEN1 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  ACA=0./0 (ALFA)
                  HGVS:

                  9.

                  rs1491135508 has merged into rs11309389 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
                    Chromosome:
                    2:17751477 (GRCh38)
                    2:17932744 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:17751467:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
                    Gene:
                    SMC6 (Varview), GEN1 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAAAAAA=0./0 (ALFA)
                    HGVS:
                    NC_000002.12:g.17751477_17751483del, NC_000002.12:g.17751480_17751483del, NC_000002.12:g.17751481_17751483del, NC_000002.12:g.17751482_17751483del, NC_000002.12:g.17751483del, NC_000002.12:g.17751483dup, NC_000002.12:g.17751482_17751483dup, NC_000002.12:g.17751481_17751483dup, NC_000002.12:g.17751477_17751483dup, NC_000002.11:g.17932744_17932750del, NC_000002.11:g.17932747_17932750del, NC_000002.11:g.17932748_17932750del, NC_000002.11:g.17932749_17932750del, NC_000002.11:g.17932750del, NC_000002.11:g.17932750dup, NC_000002.11:g.17932749_17932750dup, NC_000002.11:g.17932748_17932750dup, NC_000002.11:g.17932744_17932750dup, NG_051292.1:g.2791_2797del, NG_051292.1:g.2794_2797del, NG_051292.1:g.2795_2797del, NG_051292.1:g.2796_2797del, NG_051292.1:g.2797del, NG_051292.1:g.2797dup, NG_051292.1:g.2796_2797dup, NG_051292.1:g.2795_2797dup, NG_051292.1:g.2791_2797dup

                    10.

                    rs1491114493 has merged into rs373510441 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
                      Chromosome:
                      2:17671621 (GRCh38)
                      2:17852888 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:17671608:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                      Gene:
                      SMC6 (Varview)
                      Functional Consequence:
                      intron_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAAAAAAAAAAAAAAA=0./0 (ALFA)
                      A=0.3235/11 (GENOME_DK)
                      HGVS:
                      NC_000002.12:g.17671621_17671633del, NC_000002.12:g.17671625_17671633del, NC_000002.12:g.17671626_17671633del, NC_000002.12:g.17671627_17671633del, NC_000002.12:g.17671628_17671633del, NC_000002.12:g.17671629_17671633del, NC_000002.12:g.17671630_17671633del, NC_000002.12:g.17671631_17671633del, NC_000002.12:g.17671632_17671633del, NC_000002.12:g.17671633del, NC_000002.12:g.17671633dup, NC_000002.12:g.17671632_17671633dup, NC_000002.12:g.17671631_17671633dup, NC_000002.12:g.17671630_17671633dup, NC_000002.12:g.17671629_17671633dup, NC_000002.11:g.17852888_17852900del, NC_000002.11:g.17852892_17852900del, NC_000002.11:g.17852893_17852900del, NC_000002.11:g.17852894_17852900del, NC_000002.11:g.17852895_17852900del, NC_000002.11:g.17852896_17852900del, NC_000002.11:g.17852897_17852900del, NC_000002.11:g.17852898_17852900del, NC_000002.11:g.17852899_17852900del, NC_000002.11:g.17852900del, NC_000002.11:g.17852900dup, NC_000002.11:g.17852899_17852900dup, NC_000002.11:g.17852898_17852900dup, NC_000002.11:g.17852897_17852900dup, NC_000002.11:g.17852896_17852900dup

                      11.

                      rs1490983881 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        2:17701149 (GRCh38)
                        2:17882416 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:17701148:T:C
                        Gene:
                        SMC6 (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000071/1 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.000008/2 (TOPMED)
                        C=0.000106/2 (TOMMO)
                        C=0.000342/1 (KOREAN)
                        HGVS:

                        12.

                        rs1490956250 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          2:17697275 (GRCh38)
                          2:17878542 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:17697274:A:G
                          Gene:
                          SMC6 (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000156/1 (1000Genomes)
                          G=0.000166/44 (TOPMED)
                          G=0.000207/29 (GnomAD)
                          HGVS:

                          13.

                          rs1490944236 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C,G [Show Flanks]
                            Chromosome:
                            2:17754363 (GRCh38)
                            2:17935630 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:17754362:T:C,NC_000002.12:17754362:T:G
                            Gene:
                            SMC6 (Varview), GEN1 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000011/3 (TOPMED)
                            C=0.000035/1 (TOMMO)
                            HGVS:

                            14.

                            rs1490904895 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->G [Show Flanks]
                              Chromosome:
                              2:17664931 (GRCh38)
                              2:17846199 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:17664931:GG:GGG
                              Gene:
                              SMC6 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              GGG=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              G=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000002.12:g.17664933dup, NC_000002.11:g.17846200dup, NM_024624.6:c.*567dup, NM_024624.5:c.*567dup, XM_011533107.4:c.*567dup, XM_011533107.3:c.*567dup, XM_011533107.2:c.*567dup, XM_011533107.1:c.*567dup, XM_011533108.4:c.*567dup, XM_011533108.3:c.*567dup, XM_011533108.2:c.*567dup, XM_011533108.1:c.*567dup, XM_017004915.3:c.*567dup, XM_017004915.2:c.*567dup, XM_017004915.1:c.*567dup, XM_017004913.3:c.*567dup, XM_017004913.2:c.*567dup, XM_017004913.1:c.*567dup, XM_017004916.3:c.*567dup, XM_017004916.2:c.*567dup, XM_017004916.1:c.*567dup, XM_017004914.2:c.*567dup, XM_017004914.1:c.*567dup, NM_001142286.2:c.*567dup, NM_001142286.1:c.*567dup, XM_047445836.1:c.*567dup, XM_047445838.1:c.*567dup, XM_047445833.1:c.*567dup, XM_047445835.1:c.*567dup, XM_047445834.1:c.*567dup, XM_047445837.1:c.*567dup

                              15.

                              rs1490876111 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                2:17666009 (GRCh38)
                                2:17847276 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:17666008:T:A
                                Gene:
                                SMC6 (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                A=0.000015/4 (TOPMED)
                                HGVS:

                                16.

                                rs1490771108 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  2:17673389 (GRCh38)
                                  2:17854656 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:17673388:C:T
                                  Gene:
                                  SMC6 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1490750630 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A,C [Show Flanks]
                                    Chromosome:
                                    2:17714150 (GRCh38)
                                    2:17895417 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:17714149:T:A,NC_000002.12:17714149:T:C
                                    Gene:
                                    SMC6 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    A=0.000071/1 (TOMMO)
                                    HGVS:

                                    18.

                                    rs1490728309 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      2:17703529 (GRCh38)
                                      2:17884796 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:17703528:C:T
                                      Gene:
                                      SMC6 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1490715157 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,G [Show Flanks]
                                        Chromosome:
                                        2:17714887 (GRCh38)
                                        2:17896154 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:17714886:C:A,NC_000002.12:17714886:C:G
                                        Gene:
                                        SMC6 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (GnomAD_exomes)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000002.12:g.17714887C>A, NC_000002.12:g.17714887C>G, NC_000002.11:g.17896154C>A, NC_000002.11:g.17896154C>G, NM_024624.6:c.1704G>T, NM_024624.6:c.1704G>C, NM_024624.5:c.1704G>T, NM_024624.5:c.1704G>C, XM_011533107.4:c.1704G>T, XM_011533107.4:c.1704G>C, XM_011533107.3:c.1704G>T, XM_011533107.3:c.1704G>C, XM_011533107.2:c.1704G>T, XM_011533107.2:c.1704G>C, XM_011533107.1:c.1704G>T, XM_011533107.1:c.1704G>C, XM_011533108.4:c.1623G>T, XM_011533108.4:c.1623G>C, XM_011533108.3:c.1623G>T, XM_011533108.3:c.1623G>C, XM_011533108.2:c.1623G>T, XM_011533108.2:c.1623G>C, XM_011533108.1:c.1623G>T, XM_011533108.1:c.1623G>C, XM_017004915.3:c.1704G>T, XM_017004915.3:c.1704G>C, XM_017004915.2:c.1704G>T, XM_017004915.2:c.1704G>C, XM_017004915.1:c.1704G>T, XM_017004915.1:c.1704G>C, XM_017004913.3:c.1704G>T, XM_017004913.3:c.1704G>C, XM_017004913.2:c.1704G>T, XM_017004913.2:c.1704G>C, XM_017004913.1:c.1704G>T, XM_017004913.1:c.1704G>C, XM_017004916.3:c.1623G>T, XM_017004916.3:c.1623G>C, XM_017004916.2:c.1623G>T, XM_017004916.2:c.1623G>C, XM_017004916.1:c.1623G>T, XM_017004916.1:c.1623G>C, XM_017004914.2:c.1704G>T, XM_017004914.2:c.1704G>C, XM_017004914.1:c.1704G>T, XM_017004914.1:c.1704G>C, NM_001142286.2:c.1704G>T, NM_001142286.2:c.1704G>C, NM_001142286.1:c.1704G>T, NM_001142286.1:c.1704G>C, XM_047445836.1:c.1623G>T, XM_047445836.1:c.1623G>C, XM_047445838.1:c.1623G>T, XM_047445838.1:c.1623G>C, XM_047445840.1:c.1704G>T, XM_047445840.1:c.1704G>C, XM_047445833.1:c.1704G>T, XM_047445833.1:c.1704G>C, XM_047445835.1:c.1623G>T, XM_047445835.1:c.1623G>C, XM_047445834.1:c.1623G>T, XM_047445834.1:c.1623G>C, XM_047445837.1:c.1623G>T, XM_047445837.1:c.1623G>C, XM_047445839.1:c.1704G>T, XM_047445839.1:c.1704G>C

                                        20.

                                        rs1490710469 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          2:17741840 (GRCh38)
                                          2:17923107 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:17741839:C:T
                                          Gene:
                                          SMC6 (Varview)
                                          Functional Consequence:
                                          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:

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