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Items: 1 to 20 of 3203

1.

rs1491356867 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AG>- [Show Flanks]
    Chromosome:
    13:63742142 (GRCh38)
    13:64316275 (GRCh37)
    Canonical SPDI:
    NC_000013.11:63742141:AG:
    Gene:
    OR7E156P (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    -=0.000008/1 (GnomAD)
    HGVS:
    2.

    rs1491327647 has merged into rs552530189 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      G>-,GG [Show Flanks]
      Chromosome:
      13:63739304 (GRCh38)
      13:64313437 (GRCh37)
      Canonical SPDI:
      NC_000013.11:63739303:GGGGGG:GGGGG,NC_000013.11:63739303:GGGGGG:GGGGGGG
      Gene:
      OR7E156P (Varview), LINC00395 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GGGGG=0.00012/2 (ALFA)
      -=0.0002/1 (1000Genomes)
      -=0.00027/1 (TWINSUK)
      -=0.00043/42 (GnomAD)
      -=0.00078/3 (ALSPAC)
      HGVS:
      3.

      rs1491277351 has merged into rs1486983754 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        G>-,GG [Show Flanks]
        Chromosome:
        13:63742143 (GRCh38)
        13:64316276 (GRCh37)
        Canonical SPDI:
        NC_000013.11:63742142:GGGGGGG:GGGGGG,NC_000013.11:63742142:GGGGGGG:GGGGGGGG
        Gene:
        OR7E156P (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GGGGGGGG=0./0 (ALFA)
        -=0.0038/64 (TOMMO)
        HGVS:
        4.

        rs1491250014 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->T [Show Flanks]
          Chromosome:
          13:63739121 (GRCh38)
          13:64313255 (GRCh37)
          Canonical SPDI:
          NC_000013.11:63739121:T:TT
          Gene:
          OR7E156P (Varview), LINC00395 (Varview)
          Functional Consequence:
          2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          TT=0./0 (ALFA)
          T=0.000023/3 (GnomAD)
          HGVS:
          5.

          rs1491170388 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            TG>- [Show Flanks]
            Chromosome:
            13:63739303 (GRCh38)
            13:64313436 (GRCh37)
            Canonical SPDI:
            NC_000013.11:63739302:TG:
            Gene:
            OR7E156P (Varview), LINC00395 (Varview)
            Functional Consequence:
            2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0./0 (ALFA)
            HGVS:
            6.

            rs1491065568 has merged into rs141958723 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              CCCCC>-,CC,CCC,CCCC,CCCCCC,CCCCCCC,CCCCCCCC [Show Flanks]
              Chromosome:
              13:63739117 (GRCh38)
              13:64313250 (GRCh37)
              Canonical SPDI:
              NC_000013.11:63739111:CCCCCCCCCC:CCCCC,NC_000013.11:63739111:CCCCCCCCCC:CCCCCCC,NC_000013.11:63739111:CCCCCCCCCC:CCCCCCCC,NC_000013.11:63739111:CCCCCCCCCC:CCCCCCCCC,NC_000013.11:63739111:CCCCCCCCCC:CCCCCCCCCCC,NC_000013.11:63739111:CCCCCCCCCC:CCCCCCCCCCCC,NC_000013.11:63739111:CCCCCCCCCC:CCCCCCCCCCCCC
              Gene:
              OR7E156P (Varview), LINC00395 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              CCCCCCCCCCCC=0./0 (ALFA)
              -=0.04074/157 (ALSPAC)
              -=0.04639/172 (TWINSUK)
              -=0.13039/653 (1000Genomes)
              HGVS:
              7.

              rs1490651616 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C,T [Show Flanks]
                Chromosome:
                13:63737677 (GRCh38)
                13:64311810 (GRCh37)
                Canonical SPDI:
                NC_000013.11:63737676:A:C,NC_000013.11:63737676:A:T
                Gene:
                OR7E156P (Varview), LINC00395 (Varview)
                Functional Consequence:
                intron_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                HGVS:
                8.

                rs1490626023 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  13:63738076 (GRCh38)
                  13:64312209 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:63738075:C:T
                  Gene:
                  OR7E156P (Varview), LINC00395 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000021/3 (GnomAD)
                  HGVS:
                  9.

                  rs1490032396 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    13:63737121 (GRCh38)
                    13:64311254 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:63737120:G:A
                    Gene:
                    OR7E156P (Varview), LINC00395 (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:
                    10.

                    rs1489886247 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      CT>- [Show Flanks]
                      Chromosome:
                      13:63740157 (GRCh38)
                      13:64314290 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:63740156:CT:
                      Gene:
                      OR7E156P (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      -=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1489816102 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        13:63738608 (GRCh38)
                        13:64312741 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:63738607:T:C
                        Gene:
                        OR7E156P (Varview), LINC00395 (Varview)
                        Functional Consequence:
                        intron_variant,2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1489571428 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          13:63741246 (GRCh38)
                          13:64315379 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:63741245:C:T
                          Gene:
                          OR7E156P (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000029/4 (GnomAD)
                          HGVS:
                          13.

                          rs1489268783 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            13:63738512 (GRCh38)
                            13:64312645 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:63738511:C:T
                            Gene:
                            OR7E156P (Varview), LINC00395 (Varview)
                            Functional Consequence:
                            intron_variant,2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1489190073 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A,C [Show Flanks]
                              Chromosome:
                              13:63738695 (GRCh38)
                              13:64312828 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:63738694:T:A,NC_000013.11:63738694:T:C
                              Gene:
                              OR7E156P (Varview), LINC00395 (Varview)
                              Functional Consequence:
                              intron_variant,2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1489179518 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                13:63737739 (GRCh38)
                                13:64311872 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:63737738:G:A,NC_000013.11:63737738:G:T
                                Gene:
                                OR7E156P (Varview), LINC00395 (Varview)
                                Functional Consequence:
                                intron_variant,non_coding_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:
                                16.

                                rs1488910783 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  13:63736568 (GRCh38)
                                  13:64310701 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:63736567:C:T
                                  Gene:
                                  OR7E156P (Varview), LINC00395 (Varview)
                                  Functional Consequence:
                                  intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1488897545 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    13:63738594 (GRCh38)
                                    13:64312727 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:63738593:G:C
                                    Gene:
                                    OR7E156P (Varview), LINC00395 (Varview)
                                    Functional Consequence:
                                    intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0.000071/1 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1488854544 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      13:63738211 (GRCh38)
                                      13:64312344 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:63738210:G:A,NC_000013.11:63738210:G:C
                                      Gene:
                                      OR7E156P (Varview), LINC00395 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000038/10 (TOPMED)
                                      C=0.00005/7 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1488559323 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        13:63737133 (GRCh38)
                                        13:64311266 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:63737132:A:G
                                        Gene:
                                        OR7E156P (Varview), LINC00395 (Varview)
                                        Functional Consequence:
                                        intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1488308452 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,G [Show Flanks]
                                          Chromosome:
                                          13:63736215 (GRCh38)
                                          13:64310348 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:63736214:C:A,NC_000013.11:63736214:C:G
                                          Gene:
                                          OR7E156P (Varview), LINC00395 (Varview)
                                          Functional Consequence:
                                          intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:

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