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Items: 1 to 20 of 17209

1.

rs1491561195 has merged into rs869310732 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTT>-,T,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT [Show Flanks]
    Chromosome:
    5:150620966 (GRCh38)
    5:150000528 (GRCh37)
    Canonical SPDI:
    NC_000005.10:150620955:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:150620955:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:150620955:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:150620955:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:150620955:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:150620955:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:150620955:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:150620955:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
    Gene:
    SYNPO (Varview), LOC124901107 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTT=0./0 (ALFA)
    -=0.00845/5 (NorthernSweden)
    HGVS:
    NC_000005.10:g.150620966_150620970del, NC_000005.10:g.150620967_150620970del, NC_000005.10:g.150620969_150620970del, NC_000005.10:g.150620970del, NC_000005.10:g.150620970dup, NC_000005.10:g.150620969_150620970dup, NC_000005.10:g.150620968_150620970dup, NC_000005.10:g.150620966_150620970dup, NC_000005.9:g.150000528_150000532del, NC_000005.9:g.150000529_150000532del, NC_000005.9:g.150000531_150000532del, NC_000005.9:g.150000532del, NC_000005.9:g.150000532dup, NC_000005.9:g.150000531_150000532dup, NC_000005.9:g.150000530_150000532dup, NC_000005.9:g.150000528_150000532dup, XR_007058995.1:n.2065_2069del, XR_007058995.1:n.2066_2069del, XR_007058995.1:n.2068_2069del, XR_007058995.1:n.2069del, XR_007058995.1:n.2069dup, XR_007058995.1:n.2068_2069dup, XR_007058995.1:n.2067_2069dup, XR_007058995.1:n.2065_2069dup

    2.

    rs1491494161 has merged into rs36057037 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TT>-,T,TTT [Show Flanks]
      Chromosome:
      5:150617313 (GRCh38)
      5:149996875 (GRCh37)
      Canonical SPDI:
      NC_000005.10:150617306:TTTTTTTT:TTTTTT,NC_000005.10:150617306:TTTTTTTT:TTTTTTT,NC_000005.10:150617306:TTTTTTTT:TTTTTTTTT
      Gene:
      SYNPO (Varview), LOC124901108 (Varview)
      Functional Consequence:
      2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTT=0./0 (ALFA)
      T=0.000567/150 (TOPMED)
      -=0.002148/36 (TOMMO)
      HGVS:

      3.

      rs1491454370 has merged into rs373724432 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GG>-,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG [Show Flanks]
        Chromosome:
        5:150602997 (GRCh38)
        5:149982559 (GRCh37)
        Canonical SPDI:
        NC_000005.10:150602995:GGG:G,NC_000005.10:150602995:GGG:GGGG,NC_000005.10:150602995:GGG:GGGGG,NC_000005.10:150602995:GGG:GGGGGG,NC_000005.10:150602995:GGG:GGGGGGG,NC_000005.10:150602995:GGG:GGGGGGGG,NC_000005.10:150602995:GGG:GGGGGGGGG,NC_000005.10:150602995:GGG:GGGGGGGGGG
        Gene:
        SYNPO (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GGGG=0./0 (ALFA)
        GG=0.00006/1 (TOMMO)
        -=0.00055/1 (Korea1K)
        HGVS:

        4.

        rs1491344220 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->ACACACACACACTC,ACACACACACTC,ACACACACTC,ACACACACTCTC,ACACACTC,ACACACTCTC,ACACTC,ACACTCTC,ACTC,ACTCTC [Show Flanks]
          Chromosome:
          5:150584433 (GRCh38)
          5:149963996 (GRCh37)
          Canonical SPDI:
          NC_000005.10:150584433:C:CACACACACACACTC,NC_000005.10:150584433:C:CACACACACACTC,NC_000005.10:150584433:C:CACACACACTC,NC_000005.10:150584433:C:CACACACACTCTC,NC_000005.10:150584433:C:CACACACTC,NC_000005.10:150584433:C:CACACACTCTC,NC_000005.10:150584433:C:CACACTC,NC_000005.10:150584433:C:CACACTCTC,NC_000005.10:150584433:C:CACTC,NC_000005.10:150584433:C:CACTCTC
          Gene:
          SYNPO (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          CACACACACACTC=0./0 (ALFA)
          CACTCT=0.000004/1 (TOPMED)
          HGVS:

          5.

          rs1491215784 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->CTTT [Show Flanks]
            Chromosome:
            5:150620956 (GRCh38)
            5:150000519 (GRCh37)
            Canonical SPDI:
            NC_000005.10:150620956:TTT:TTTCTTT
            Gene:
            SYNPO (Varview), LOC124901107 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTCTTT=0./0 (ALFA)
            TTTC=0.00259/41 (TOMMO)
            HGVS:

            6.

            rs1491208572 has merged into rs34481022 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ACACACACACACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
              Chromosome:
              5:150584405 (GRCh38)
              5:149963967 (GRCh37)
              Canonical SPDI:
              NC_000005.10:150584382:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000005.10:150584382:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000005.10:150584382:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000005.10:150584382:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000005.10:150584382:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000005.10:150584382:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000005.10:150584382:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000005.10:150584382:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000005.10:150584382:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000005.10:150584382:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:150584382:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:150584382:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:150584382:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:150584382:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:150584382:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:150584382:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:150584382:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:150584382:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:150584382:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:150584382:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:150584382:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
              Gene:
              SYNPO (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              ACACACACACACACACACACAC=0./0 (ALFA)
              HGVS:
              NC_000005.10:g.150584383AC[11], NC_000005.10:g.150584383AC[12], NC_000005.10:g.150584383AC[13], NC_000005.10:g.150584383AC[14], NC_000005.10:g.150584383AC[15], NC_000005.10:g.150584383AC[16], NC_000005.10:g.150584383AC[17], NC_000005.10:g.150584383AC[18], NC_000005.10:g.150584383AC[19], NC_000005.10:g.150584383AC[20], NC_000005.10:g.150584383AC[21], NC_000005.10:g.150584383AC[22], NC_000005.10:g.150584383AC[23], NC_000005.10:g.150584383AC[24], NC_000005.10:g.150584383AC[25], NC_000005.10:g.150584383AC[27], NC_000005.10:g.150584383AC[28], NC_000005.10:g.150584383AC[29], NC_000005.10:g.150584383AC[30], NC_000005.10:g.150584383AC[31], NC_000005.10:g.150584383AC[32], NC_000005.9:g.149963945AC[11], NC_000005.9:g.149963945AC[12], NC_000005.9:g.149963945AC[13], NC_000005.9:g.149963945AC[14], NC_000005.9:g.149963945AC[15], NC_000005.9:g.149963945AC[16], NC_000005.9:g.149963945AC[17], NC_000005.9:g.149963945AC[18], NC_000005.9:g.149963945AC[19], NC_000005.9:g.149963945AC[20], NC_000005.9:g.149963945AC[21], NC_000005.9:g.149963945AC[22], NC_000005.9:g.149963945AC[23], NC_000005.9:g.149963945AC[24], NC_000005.9:g.149963945AC[25], NC_000005.9:g.149963945AC[27], NC_000005.9:g.149963945AC[28], NC_000005.9:g.149963945AC[29], NC_000005.9:g.149963945AC[30], NC_000005.9:g.149963945AC[31], NC_000005.9:g.149963945AC[32]

              7.

              rs1491183897 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->A [Show Flanks]
                Chromosome:
                5:150602996 (GRCh38)
                5:149982559 (GRCh37)
                Canonical SPDI:
                NC_000005.10:150602996::A
                Gene:
                SYNPO (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by cluster
                MAF:
                A=0.003773/480 (GnomAD)
                A=0.00406/26 (1000Genomes)
                HGVS:

                8.

                rs1491107437 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  TA>- [Show Flanks]
                  Chromosome:
                  5:150584382 (GRCh38)
                  5:149963944 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:150584381:TA:
                  Gene:
                  SYNPO (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0.00287/34 (ALFA)
                  HGVS:

                  9.

                  rs1490792734 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C,T [Show Flanks]
                    Chromosome:
                    5:150633036 (GRCh38)
                    5:150012598 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:150633035:G:C,NC_000005.10:150633035:G:T
                    Gene:
                    SYNPO (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    C=0.000014/2 (GnomAD)
                    HGVS:

                    10.

                    rs1490739883 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->AT [Show Flanks]
                      Chromosome:
                      5:150603000 (GRCh38)
                      5:149982563 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:150603000:T:TAT
                      Gene:
                      SYNPO (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      TAT=0./0 (ALFA)
                      TA=0.000009/1 (GnomAD)
                      HGVS:

                      11.

                      rs1490724002 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        5:150603971 (GRCh38)
                        5:149983533 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:150603970:G:A,NC_000005.10:150603970:G:T
                        Gene:
                        SYNPO (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000023/6 (TOPMED)
                        T=0.000036/5 (GnomAD)
                        HGVS:

                        12.

                        rs1490701778 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          5:150618266 (GRCh38)
                          5:149997828 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:150618265:G:A
                          Gene:
                          SYNPO (Varview), LOC124901108 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1490647556 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            5:150641803 (GRCh38)
                            5:150021365 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:150641802:G:T
                            Gene:
                            SYNPO (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000008/2 (TOPMED)
                            HGVS:

                            14.

                            rs1490630625 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->GGCGCC [Show Flanks]
                              Chromosome:
                              5:150656735 (GRCh38)
                              5:150036298 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:150656735:GGCGCC:GGCGCCGGCGCC
                              Gene:
                              SYNPO (Varview)
                              Functional Consequence:
                              inframe_insertion,genic_downstream_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              GGCGCCGGCGCC=0./0 (ALFA)
                              GGCGCC=0.000067/9 (GnomAD)
                              HGVS:
                              NC_000005.10:g.150656736_150656741dup, NC_000005.9:g.150036298_150036303dup, NG_032584.1:g.896_901dup, NM_007286.6:c.2361_2366dup, NM_007286.5:c.2361_2366dup, XM_006714755.4:c.3093_3098dup, XM_006714755.3:c.3093_3098dup, XM_006714755.2:c.3093_3098dup, XM_006714755.1:c.3093_3098dup, XM_017009008.2:c.3093_3098dup, XM_017009008.1:c.3093_3098dup, XM_005268371.2:c.2361_2366dup, XM_005268371.1:c.2361_2366dup, XM_047416685.1:c.3093_3098dup, XM_047416686.1:c.3093_3098dup, XM_047416687.1:c.3093_3098dup, XM_047416684.1:c.3093_3098dup, XM_047416688.1:c.3093_3098dup, XM_047416689.1:c.3093_3098dup, NP_009217.3:p.Ala788_Pro789dup, XP_006714818.1:p.Ala1032_Pro1033dup, XP_016864497.1:p.Ala1032_Pro1033dup, XP_005268428.1:p.Ala788_Pro789dup, XP_047272641.1:p.Ala1032_Pro1033dup, XP_047272642.1:p.Ala1032_Pro1033dup, XP_047272643.1:p.Ala1032_Pro1033dup, XP_047272640.1:p.Ala1032_Pro1033dup, XP_047272644.1:p.Ala1032_Pro1033dup, XP_047272645.1:p.Ala1032_Pro1033dup

                              15.

                              rs1490598991 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                A>- [Show Flanks]
                                Chromosome:
                                5:150589665 (GRCh38)
                                5:149969227 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:150589664:A:
                                Gene:
                                SYNPO (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                -=0.000071/1 (ALFA)
                                -=0.000015/4 (TOPMED)
                                -=0.000029/4 (GnomAD)
                                HGVS:

                                16.

                                rs1490582208 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  5:150598439 (GRCh38)
                                  5:149978001 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:150598438:G:A
                                  Gene:
                                  SYNPO (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000015/4 (TOPMED)
                                  A=0.000021/3 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1490535588 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    5:150640912 (GRCh38)
                                    5:150020474 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:150640911:A:G
                                    Gene:
                                    SYNPO (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1490520070 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      5:150633792 (GRCh38)
                                      5:150013354 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:150633791:T:C
                                      Gene:
                                      SYNPO (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1490490457 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        5:150609958 (GRCh38)
                                        5:149989520 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:150609957:C:T
                                        Gene:
                                        SYNPO (Varview), LOC124901108 (Varview)
                                        Functional Consequence:
                                        genic_upstream_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:

                                        20.

                                        rs1490378344 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          5:150596992 (GRCh38)
                                          5:149976554 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:150596991:T:C
                                          Gene:
                                          SYNPO (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:

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