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Items: 1 to 20 of 1172

1.

rs1490928528 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    11:3392655 (GRCh38)
    11:3413885 (GRCh37)
    Canonical SPDI:
    NC_000011.10:3392654:G:A
    Gene:
    OR7E12P (Varview), TSSC2 (Varview)
    Functional Consequence:
    intron_variant,2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1489919426 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      11:3390458 (GRCh38)
      11:3411688 (GRCh37)
      Canonical SPDI:
      NC_000011.10:3390457:T:G
      Gene:
      OR7E12P (Varview), TSSC2 (Varview)
      Functional Consequence:
      downstream_transcript_variant,intron_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000007/1 (GnomAD)
      G=0.000011/3 (TOPMED)
      HGVS:
      3.

      rs1489125433 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->A [Show Flanks]
        Chromosome:
        11:3391802 (GRCh38)
        11:3413033 (GRCh37)
        Canonical SPDI:
        NC_000011.10:3391802:AAA:AAAA
        Gene:
        OR7E12P (Varview), TSSC2 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAA=0.000051/1 (ALFA)
        A=0.000011/3 (TOPMED)
        A=0.000014/2 (GnomAD)
        A=0.000015/2 (GnomAD_exomes)
        HGVS:
        4.

        rs1488857484 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          11:3393694 (GRCh38)
          11:3414924 (GRCh37)
          Canonical SPDI:
          NC_000011.10:3393693:G:T
          Gene:
          OR7E12P (Varview), TSSC2 (Varview)
          Functional Consequence:
          intron_variant,2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000084/1 (ALFA)
          T=0.000014/2 (GnomAD)
          T=0.000019/5 (TOPMED)
          HGVS:
          5.

          rs1488633458 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            11:3391218 (GRCh38)
            11:3412448 (GRCh37)
            Canonical SPDI:
            NC_000011.10:3391217:C:G
            Gene:
            OR7E12P (Varview), TSSC2 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.00135/22 (ALFA)
            G=0.00513/86 (TOMMO)
            G=0.0089/57 (1000Genomes)
            G=0.01129/33 (KOREAN)
            G=0.01146/21 (Korea1K)
            HGVS:
            6.

            rs1487952591 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C,G [Show Flanks]
              Chromosome:
              11:3392371 (GRCh38)
              11:3413601 (GRCh37)
              Canonical SPDI:
              NC_000011.10:3392370:T:C,NC_000011.10:3392370:T:G
              Gene:
              OR7E12P (Varview), TSSC2 (Varview)
              Functional Consequence:
              intron_variant,2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              C=0.000342/1 (KOREAN)
              HGVS:
              7.

              rs1487528425 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                11:3392043 (GRCh38)
                11:3413273 (GRCh37)
                Canonical SPDI:
                NC_000011.10:3392042:T:G
                Gene:
                OR7E12P (Varview), TSSC2 (Varview)
                Functional Consequence:
                intron_variant,2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1487434125 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  11:3393150 (GRCh38)
                  11:3414380 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:3393149:A:G
                  Gene:
                  OR7E12P (Varview), TSSC2 (Varview)
                  Functional Consequence:
                  intron_variant,2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0.000224/1 (ALFA)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1486906220 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    11:3392862 (GRCh38)
                    11:3414092 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:3392861:A:G
                    Gene:
                    OR7E12P (Varview), TSSC2 (Varview)
                    Functional Consequence:
                    intron_variant,2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.00845/138 (ALFA)
                    G=0.01624/459 (TOMMO)
                    G=0.02498/160 (1000Genomes)
                    G=0.02806/82 (KOREAN)
                    HGVS:
                    10.

                    rs1486802517 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      11:3391389 (GRCh38)
                      11:3412619 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:3391388:C:T
                      Gene:
                      OR7E12P (Varview), TSSC2 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      T=0.000012/2 (GnomAD_exomes)
                      T=0.000019/5 (TOPMED)
                      HGVS:
                      11.

                      rs1486088750 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        11:3392990 (GRCh38)
                        11:3414220 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:3392989:G:A
                        Gene:
                        OR7E12P (Varview), TSSC2 (Varview)
                        Functional Consequence:
                        intron_variant,2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1485501173 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          11:3393076 (GRCh38)
                          11:3414306 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:3393075:C:T
                          Gene:
                          OR7E12P (Varview), TSSC2 (Varview)
                          Functional Consequence:
                          intron_variant,2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          T=0.000035/1 (TOMMO)
                          HGVS:
                          13.

                          rs1485427103 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            11:3390717 (GRCh38)
                            11:3411947 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:3390716:G:A
                            Gene:
                            OR7E12P (Varview), TSSC2 (Varview)
                            Functional Consequence:
                            non_coding_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:
                            14.

                            rs1485377797 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              11:3390946 (GRCh38)
                              11:3412176 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:3390945:A:G
                              Gene:
                              OR7E12P (Varview), TSSC2 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1485105359 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AGACGTGG>- [Show Flanks]
                                Chromosome:
                                11:3393507 (GRCh38)
                                11:3414737 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:3393505:GAGACGTGG:G
                                Gene:
                                OR7E12P (Varview), TSSC2 (Varview)
                                Functional Consequence:
                                intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                -=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1484185850 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G,T [Show Flanks]
                                  Chromosome:
                                  11:3391729 (GRCh38)
                                  11:3412959 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:3391728:A:G,NC_000011.10:3391728:A:T
                                  Gene:
                                  OR7E12P (Varview), TSSC2 (Varview)
                                  Functional Consequence:
                                  intron_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1483889342 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A,C [Show Flanks]
                                    Chromosome:
                                    11:3393525 (GRCh38)
                                    11:3414755 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:3393524:T:A,NC_000011.10:3393524:T:C
                                    Gene:
                                    OR7E12P (Varview), TSSC2 (Varview)
                                    Functional Consequence:
                                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1483401579 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      11:3392893 (GRCh38)
                                      11:3414123 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:3392892:C:T
                                      Gene:
                                      OR7E12P (Varview), TSSC2 (Varview)
                                      Functional Consequence:
                                      intron_variant,upstream_transcript_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:
                                      19.

                                      rs1482910482 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        11:3393843 (GRCh38)
                                        11:3415073 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:3393842:A:G
                                        Gene:
                                        OR7E12P (Varview), TSSC2 (Varview)
                                        Functional Consequence:
                                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1482884985 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G,T [Show Flanks]
                                          Chromosome:
                                          11:3390875 (GRCh38)
                                          11:3412105 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:3390874:A:G,NC_000011.10:3390874:A:T
                                          Gene:
                                          OR7E12P (Varview), TSSC2 (Varview)
                                          Functional Consequence:
                                          intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.00005/1 (ALFA)
                                          HGVS:

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