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Items: 1 to 20 of 1071

1.

rs1490993367 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    12:16987638 (GRCh38)
    12:17140572 (GRCh37)
    Canonical SPDI:
    NC_000012.12:16987637:A:G
    Gene:
    SKP1P2 (Varview), LOC105369677 (Varview)
    Functional Consequence:
    intron_variant,2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490967831 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      12:16988675 (GRCh38)
      12:17141609 (GRCh37)
      Canonical SPDI:
      NC_000012.12:16988674:G:A
      Gene:
      SKP1P2 (Varview), LOC105369677 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000036/5 (GnomAD)
      A=0.000042/11 (TOPMED)
      HGVS:
      3.

      rs1490409218 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        12:16989196 (GRCh38)
        12:17142130 (GRCh37)
        Canonical SPDI:
        NC_000012.12:16989195:C:T
        Gene:
        SKP1P2 (Varview), LOC105369677 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1489655053 has merged into rs144109882 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          A>- [Show Flanks]
          Chromosome:
          12:16990287 (GRCh38)
          12:17143221 (GRCh37)
          Canonical SPDI:
          NC_000012.12:16990286:AAAAAAA:AAAAAA
          Gene:
          SKP1P2 (Varview), LOC105369677 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
          Validated:
          by cluster
          HGVS:
          5.

          rs1489035195 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            12:16991068 (GRCh38)
            12:17144002 (GRCh37)
            Canonical SPDI:
            NC_000012.12:16991067:C:G
            Gene:
            SKP1P2 (Varview)
            Functional Consequence:
            downstream_transcript_variant,500B_downstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000008/2 (TOPMED)
            G=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1488647639 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              12:16988176 (GRCh38)
              12:17141110 (GRCh37)
              Canonical SPDI:
              NC_000012.12:16988175:G:C
              Gene:
              SKP1P2 (Varview), LOC105369677 (Varview)
              Functional Consequence:
              intron_variant,2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000136/19 (GnomAD)
              HGVS:
              7.

              rs1486766826 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                12:16987195 (GRCh38)
                12:17140129 (GRCh37)
                Canonical SPDI:
                NC_000012.12:16987194:T:C
                Gene:
                SKP1P2 (Varview), LOC105369677 (Varview)
                Functional Consequence:
                intron_variant,2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                C=0.000011/3 (TOPMED)
                HGVS:
                8.

                rs1486717983 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AATGCA>- [Show Flanks]
                  Chromosome:
                  12:16990758 (GRCh38)
                  12:17143692 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:16990755:CAAATGCA:CA
                  Gene:
                  SKP1P2 (Varview)
                  Functional Consequence:
                  downstream_transcript_variant,500B_downstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  CA=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1486284736 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    12:16990079 (GRCh38)
                    12:17143013 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:16990078:A:G
                    Gene:
                    SKP1P2 (Varview), LOC105369677 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0.000224/1 (ALFA)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1485695503 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      12:16991027 (GRCh38)
                      12:17143961 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:16991026:G:A,NC_000012.12:16991026:G:T
                      Gene:
                      SKP1P2 (Varview)
                      Functional Consequence:
                      downstream_transcript_variant,500B_downstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1484212835 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        12:16987370 (GRCh38)
                        12:17140304 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:16987369:T:A
                        Gene:
                        SKP1P2 (Varview), LOC105369677 (Varview)
                        Functional Consequence:
                        intron_variant,2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1484160561 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          12:16989856 (GRCh38)
                          12:17142790 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:16989855:A:T
                          Gene:
                          SKP1P2 (Varview), LOC105369677 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          T=0.001369/4 (KOREAN)
                          HGVS:
                          13.

                          rs1483690739 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            12:16988583 (GRCh38)
                            12:17141517 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:16988582:G:A
                            Gene:
                            SKP1P2 (Varview), LOC105369677 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1482998647 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C,G [Show Flanks]
                              Chromosome:
                              12:16987751 (GRCh38)
                              12:17140685 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:16987750:T:C,NC_000012.12:16987750:T:G
                              Gene:
                              SKP1P2 (Varview), LOC105369677 (Varview)
                              Functional Consequence:
                              intron_variant,2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1481960208 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                12:16990194 (GRCh38)
                                12:17143128 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:16990193:C:T
                                Gene:
                                SKP1P2 (Varview), LOC105369677 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_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.

                                rs1481757235 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  A>- [Show Flanks]
                                  Chromosome:
                                  12:16986946 (GRCh38)
                                  12:17139880 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:16986945:AA:A
                                  Gene:
                                  SKP1P2 (Varview), LOC105369677 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AA=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  -=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1481702477 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    12:16988194 (GRCh38)
                                    12:17141128 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:16988193:A:T
                                    Gene:
                                    SKP1P2 (Varview), LOC105369677 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1479885134 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      12:16989341 (GRCh38)
                                      12:17142275 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:16989340:C:A
                                      Gene:
                                      SKP1P2 (Varview), LOC105369677 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                                      HGVS:
                                      19.

                                      rs1479486432 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        12:16988292 (GRCh38)
                                        12:17141226 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:16988291:A:G
                                        Gene:
                                        SKP1P2 (Varview), LOC105369677 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000019/5 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1479308468 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          12:16988825 (GRCh38)
                                          12:17141759 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:16988824:T:C
                                          Gene:
                                          SKP1P2 (Varview), LOC105369677 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          C=0.000008/2 (TOPMED)
                                          HGVS:

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