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Items: 1 to 20 of 621

1.

rs1491330982 has merged into rs60657662 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC [Show Flanks]
    Chromosome:
    9:123402254 (GRCh38)
    9:126164533 (GRCh37)
    Canonical SPDI:
    NC_000009.12:123402242:CACACACACACACACACACAC:CACACACACAC,NC_000009.12:123402242:CACACACACACACACACACAC:CACACACACACAC,NC_000009.12:123402242:CACACACACACACACACACAC:CACACACACACACAC,NC_000009.12:123402242:CACACACACACACACACACAC:CACACACACACACACAC,NC_000009.12:123402242:CACACACACACACACACACAC:CACACACACACACACACAC,NC_000009.12:123402242:CACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000009.12:123402242:CACACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000009.12:123402242:CACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000009.12:123402242:CACACACACACACACACACAC:CACACACACACACACACACACACACACAC
    Gene:
    DENND1A (Varview), MIR601 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CACACACACACACAC=0./0 (ALFA)
    -=0.1094/21 (Vietnamese)
    -=0.2739/155 (NorthernSweden)
    -=0.325/13 (GENOME_DK)
    -=0.3275/1262 (ALSPAC)
    -=0.3371/1250 (TWINSUK)
    HGVS:

    2.

    rs1491302850 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      GC>- [Show Flanks]
      Chromosome:
      9:123402242 (GRCh38)
      9:126164521 (GRCh37)
      Canonical SPDI:
      NC_000009.12:123402241:GC:
      Gene:
      DENND1A (Varview), MIR601 (Varview)
      Functional Consequence:
      500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
      Validated:
      by frequency,by cluster
      MAF:
      -=0.0221/82 (TWINSUK)
      -=0.0228/88 (ALSPAC)
      HGVS:

      3.

      rs1491165404 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GC>-,GCGC [Show Flanks]
        Chromosome:
        9:123402264 (GRCh38)
        9:126164543 (GRCh37)
        Canonical SPDI:
        NC_000009.12:123402262:CGC:C,NC_000009.12:123402262:CGC:CGCGC
        Gene:
        DENND1A (Varview), MIR601 (Varview)
        Functional Consequence:
        500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        CGCGC=0./0 (ALFA)
        CG=0.000007/1 (GnomAD)
        HGVS:

        4.

        rs1490946407 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          9:123404173 (GRCh38)
          9:126166452 (GRCh37)
          Canonical SPDI:
          NC_000009.12:123404172:G:T
          Gene:
          DENND1A (Varview), MIR601 (Varview)
          Functional Consequence:
          upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          HGVS:

          5.

          rs1490756911 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            9:123403160 (GRCh38)
            9:126165439 (GRCh37)
            Canonical SPDI:
            NC_000009.12:123403159:C:T
            Gene:
            DENND1A (Varview), MIR601 (Varview)
            Functional Consequence:
            upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000014/2 (GnomAD)
            HGVS:

            6.

            rs1490591571 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              G>- [Show Flanks]
              Chromosome:
              9:123403565 (GRCh38)
              9:126165844 (GRCh37)
              Canonical SPDI:
              NC_000009.12:123403564:GG:G
              Gene:
              DENND1A (Varview), MIR601 (Varview)
              Functional Consequence:
              upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              GG=0./0 (ALFA)
              -=0.000257/68 (TOPMED)
              -=0.000264/37 (GnomAD)
              HGVS:

              7.

              rs1489547225 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                9:123402039 (GRCh38)
                9:126164318 (GRCh37)
                Canonical SPDI:
                NC_000009.12:123402038:A:G
                Gene:
                DENND1A (Varview), MIR601 (Varview)
                Functional Consequence:
                500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:

                8.

                rs1486787037 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  9:123403760 (GRCh38)
                  9:126166039 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:123403759:T:C
                  Gene:
                  DENND1A (Varview), MIR601 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:

                  9.

                  rs1484751485 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,G,T [Show Flanks]
                    Chromosome:
                    9:123404564 (GRCh38)
                    9:126166843 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:123404563:C:A,NC_000009.12:123404563:C:G,NC_000009.12:123404563:C:T
                    Gene:
                    DENND1A (Varview), MIR601 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    G=0.000022/3 (GnomAD)
                    HGVS:

                    10.

                    rs1483469356 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      9:123402043 (GRCh38)
                      9:126164322 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:123402042:C:T
                      Gene:
                      DENND1A (Varview), MIR601 (Varview)
                      Functional Consequence:
                      500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      T=0.000019/5 (TOPMED)
                      HGVS:

                      11.

                      rs1483306372 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        9:123402901 (GRCh38)
                        9:126165180 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:123402900:G:A
                        Gene:
                        DENND1A (Varview), MIR601 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000071/1 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000019/5 (TOPMED)
                        A=0.000035/1 (TOMMO)
                        G=0.5/1 (SGDP_PRJ)
                        HGVS:

                        12.

                        rs1482703997 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          9:123403846 (GRCh38)
                          9:126166125 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:123403845:T:C
                          Gene:
                          DENND1A (Varview), MIR601 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1481953458 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            GG>- [Show Flanks]
                            Chromosome:
                            9:123402110 (GRCh38)
                            9:126164389 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:123402106:GGGGG:GGG
                            Gene:
                            DENND1A (Varview), MIR601 (Varview)
                            Functional Consequence:
                            500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
                            HGVS:

                            14.

                            rs1480311334 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              9:123403429 (GRCh38)
                              9:126165708 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:123403428:C:T
                              Gene:
                              DENND1A (Varview), MIR601 (Varview)
                              Functional Consequence:
                              missense_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              T=0.000012/3 (GnomAD_exomes)
                              T=0.000342/1 (KOREAN)
                              T=0.001097/18 (TOMMO)
                              HGVS:
                              NC_000009.12:g.123403429C>T, NC_000009.11:g.126165708C>T, XM_005252113.6:c.1595G>A, XM_005252113.5:c.1595G>A, XM_005252113.4:c.1595G>A, XM_005252113.3:c.1595G>A, XM_005252113.2:c.1595G>A, XM_005252113.1:c.1595G>A, XM_006717195.5:c.1595G>A, XM_006717195.4:c.1595G>A, XM_006717195.3:c.1595G>A, XM_006717195.2:c.1595G>A, XM_006717195.1:c.1595G>A, XM_005252111.5:c.1595G>A, XM_005252111.4:c.1595G>A, XM_005252111.3:c.1595G>A, XM_005252111.2:c.1595G>A, XM_005252111.1:c.1595G>A, XM_011518882.4:c.1649G>A, XM_011518882.3:c.1649G>A, XM_011518882.2:c.1649G>A, XM_011518882.1:c.1649G>A, XM_011518886.4:c.1649G>A, XM_011518886.3:c.1649G>A, XM_011518886.2:c.1649G>A, XM_011518886.1:c.1649G>A, XM_011518885.4:c.1541G>A, XM_011518885.3:c.1541G>A, XM_011518885.2:c.1541G>A, XM_011518885.1:c.1541G>A, NM_024820.3:c.1550G>A, NM_024820.2:c.1550G>A, NM_001352964.2:c.1604G>A, NM_001352964.1:c.1604G>A, XM_024447622.2:c.1514G>A, XM_024447622.1:c.1514G>A, XM_024447621.2:c.1508G>A, XM_024447621.1:c.1508G>A, NM_001352965.2:c.1454G>A, NM_001352965.1:c.1454G>A, NM_020946.2:c.1550G>A, NM_020946.1:c.1550G>A, XM_024447623.2:c.1016G>A, XM_024447623.1:c.1016G>A, NR_148208.2:n.1772G>A, NR_148208.1:n.1784G>A, NM_001352966.2:c.1460G>A, NM_001352966.1:c.1460G>A, NM_001352967.2:c.1454G>A, NM_001352967.1:c.1454G>A, XM_047423613.1:c.1658G>A, XM_047423615.1:c.1601G>A, XM_047423614.1:c.1604G>A, NM_001393654.1:c.1550G>A, XM_047423616.1:c.1658G>A, NM_001400449.1:c.1454G>A, XM_047423618.1:c.1604G>A, XM_047423619.1:c.1604G>A, XM_047423620.1:c.1547G>A, XM_047423622.1:c.1460G>A, XM_047423623.1:c.1454G>A, XM_047423621.1:c.1493G>A, XM_047423624.1:c.1403G>A, XM_047423625.1:c.1397G>A, XM_047423627.1:c.1604G>A, XM_047423626.1:c.1658G>A, XM_047423630.1:c.1508G>A, NM_001400446.1:c.1457G>A, XM_047423631.1:c.1493G>A, XM_047423629.1:c.1547G>A, XM_047423628.1:c.1604G>A, XR_007061335.1:n.1817G>A, XR_007061334.1:n.1817G>A, XP_005252170.1:p.Arg532Gln, XP_006717258.1:p.Arg532Gln, XP_005252168.1:p.Arg532Gln, XP_011517184.1:p.Arg550Gln, XP_011517188.1:p.Arg550Gln, XP_011517187.1:p.Arg514Gln, NP_079096.2:p.Arg517Gln, NP_001339893.1:p.Arg535Gln, XP_024303390.1:p.Arg505Gln, XP_024303389.1:p.Arg503Gln, NP_001339894.1:p.Arg485Gln, NP_065997.1:p.Arg517Gln, XP_024303391.1:p.Arg339Gln, NP_001339895.1:p.Arg487Gln, NP_001339896.1:p.Arg485Gln, XP_047279569.1:p.Arg553Gln, XP_047279571.1:p.Arg534Gln, XP_047279570.1:p.Arg535Gln, NP_001380583.1:p.Arg517Gln, XP_047279572.1:p.Arg553Gln, NP_001387378.1:p.Arg485Gln, XP_047279574.1:p.Arg535Gln, XP_047279575.1:p.Arg535Gln, XP_047279576.1:p.Arg516Gln, XP_047279578.1:p.Arg487Gln, XP_047279579.1:p.Arg485Gln, XP_047279577.1:p.Arg498Gln, XP_047279580.1:p.Arg468Gln, XP_047279581.1:p.Arg466Gln, XP_047279583.1:p.Arg535Gln, XP_047279582.1:p.Arg553Gln, XP_047279586.1:p.Arg503Gln, NP_001387375.1:p.Arg486Gln, XP_047279587.1:p.Arg498Gln, XP_047279585.1:p.Arg516Gln, XP_047279584.1:p.Arg535Gln

                              15.

                              rs1480218894 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                9:123402782 (GRCh38)
                                9:126165061 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:123402781:C:T
                                Gene:
                                DENND1A (Varview), MIR601 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                T=0.000011/3 (TOPMED)
                                HGVS:

                                16.

                                rs1478688886 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  9:123402312 (GRCh38)
                                  9:126164591 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:123402311:G:A
                                  Gene:
                                  DENND1A (Varview), MIR601 (Varview)
                                  Functional Consequence:
                                  500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1478410961 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    9:123402697 (GRCh38)
                                    9:126164976 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:123402696:A:G
                                    Gene:
                                    DENND1A (Varview), MIR601 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0.000071/1 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1477932197 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A,G [Show Flanks]
                                      Chromosome:
                                      9:123402331 (GRCh38)
                                      9:126164610 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:123402330:T:A,NC_000009.12:123402330:T:G
                                      Gene:
                                      DENND1A (Varview), MIR601 (Varview)
                                      Functional Consequence:
                                      500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:

                                      19.

                                      rs1475955875 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        9:123404396 (GRCh38)
                                        9:126166675 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:123404395:T:C
                                        Gene:
                                        DENND1A (Varview), MIR601 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.00003/8 (TOPMED)
                                        C=0.000156/1 (1000Genomes)
                                        HGVS:

                                        20.

                                        rs1475252685 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          CT>- [Show Flanks]
                                          Chromosome:
                                          9:123402449 (GRCh38)
                                          9:126164728 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:123402446:CTCT:CT
                                          Gene:
                                          DENND1A (Varview), MIR601 (Varview)
                                          Functional Consequence:
                                          intron_variant,500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          CTCT=0./0 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          -=0.000007/1 (GnomAD)
                                          HGVS:

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