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Items: 1 to 20 of 977

1.

rs1491366627 has merged into rs56111510 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    19:9215351 (GRCh38)
    19:9326027 (GRCh37)
    Canonical SPDI:
    NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    OR7E24 (Varview), OR7D4 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAA=0./0 (ALFA)
    HGVS:
    NC_000019.10:g.9215351_9215365del, NC_000019.10:g.9215352_9215365del, NC_000019.10:g.9215353_9215365del, NC_000019.10:g.9215354_9215365del, NC_000019.10:g.9215358_9215365del, NC_000019.10:g.9215359_9215365del, NC_000019.10:g.9215360_9215365del, NC_000019.10:g.9215361_9215365del, NC_000019.10:g.9215362_9215365del, NC_000019.10:g.9215363_9215365del, NC_000019.10:g.9215364_9215365del, NC_000019.10:g.9215365del, NC_000019.10:g.9215365dup, NC_000019.10:g.9215364_9215365dup, NC_000019.10:g.9215363_9215365dup, NC_000019.10:g.9215361_9215365dup, NC_000019.10:g.9215360_9215365dup, NC_000019.10:g.9215359_9215365dup, NC_000019.9:g.9326027_9326041del, NC_000019.9:g.9326028_9326041del, NC_000019.9:g.9326029_9326041del, NC_000019.9:g.9326030_9326041del, NC_000019.9:g.9326034_9326041del, NC_000019.9:g.9326035_9326041del, NC_000019.9:g.9326036_9326041del, NC_000019.9:g.9326037_9326041del, NC_000019.9:g.9326038_9326041del, NC_000019.9:g.9326039_9326041del, NC_000019.9:g.9326040_9326041del, NC_000019.9:g.9326041del, NC_000019.9:g.9326041dup, NC_000019.9:g.9326040_9326041dup, NC_000019.9:g.9326039_9326041dup, NC_000019.9:g.9326037_9326041dup, NC_000019.9:g.9326036_9326041dup, NC_000019.9:g.9326035_9326041dup, NG_027953.1:g.4516_4530del, NG_027953.1:g.4517_4530del, NG_027953.1:g.4518_4530del, NG_027953.1:g.4519_4530del, NG_027953.1:g.4523_4530del, NG_027953.1:g.4524_4530del, NG_027953.1:g.4525_4530del, NG_027953.1:g.4526_4530del, NG_027953.1:g.4527_4530del, NG_027953.1:g.4528_4530del, NG_027953.1:g.4529_4530del, NG_027953.1:g.4530del, NG_027953.1:g.4530dup, NG_027953.1:g.4529_4530dup, NG_027953.1:g.4528_4530dup, NG_027953.1:g.4526_4530dup, NG_027953.1:g.4525_4530dup, NG_027953.1:g.4524_4530dup
    2.

    rs1491347156 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      19:9215341 (GRCh38)
      19:9326017 (GRCh37)
      Canonical SPDI:
      NC_000019.10:9215340:CA:
      Gene:
      OR7E24 (Varview), OR7D4 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.00708/84 (ALFA)
      -=0.00287/81 (TOMMO)
      HGVS:
      3.

      rs1490474662 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C,G [Show Flanks]
        Chromosome:
        19:9213669 (GRCh38)
        19:9324345 (GRCh37)
        Canonical SPDI:
        NC_000019.10:9213668:T:C,NC_000019.10:9213668:T:G
        Gene:
        OR7E24 (Varview), OR7D4 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by cluster
        MAF:
        G=0.0027/5 (Korea1K)
        HGVS:
        4.

        rs1490264637 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          19:9214101 (GRCh38)
          19:9324777 (GRCh37)
          Canonical SPDI:
          NC_000019.10:9214100:C:A
          Gene:
          OR7E24 (Varview), OR7D4 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1490194466 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            19:9213760 (GRCh38)
            19:9324436 (GRCh37)
            Canonical SPDI:
            NC_000019.10:9213759:A:C
            Gene:
            OR7E24 (Varview), OR7D4 (Varview)
            Functional Consequence:
            3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1489369366 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              19:9215920 (GRCh38)
              19:9326596 (GRCh37)
              Canonical SPDI:
              NC_000019.10:9215919:A:G
              Gene:
              OR7E24 (Varview), OR7D4 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1488446437 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                19:9214716 (GRCh38)
                19:9325392 (GRCh37)
                Canonical SPDI:
                NC_000019.10:9214715:C:A
                Gene:
                OR7E24 (Varview), OR7D4 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                HGVS:
                8.

                rs1486646326 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  19:9215019 (GRCh38)
                  19:9325695 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:9215018:A:G
                  Gene:
                  OR7E24 (Varview), OR7D4 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1484761022 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    19:9216219 (GRCh38)
                    19:9326895 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:9216218:T:C
                    Gene:
                    OR7E24 (Varview), OR7D4 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000011/3 (TOPMED)
                    HGVS:
                    10.

                    rs1484673623 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      19:9214127 (GRCh38)
                      19:9324803 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:9214126:G:T
                      Gene:
                      OR7E24 (Varview), OR7D4 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant,intron_variant,genic_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:
                      11.

                      rs1483624748 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        19:9214670 (GRCh38)
                        19:9325346 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:9214669:G:A
                        Gene:
                        OR7E24 (Varview), OR7D4 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1483321693 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          19:9216791 (GRCh38)
                          19:9327467 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:9216790:C:G
                          Gene:
                          OR7E24 (Varview), OR7D4 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1482711166 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            19:9213856 (GRCh38)
                            19:9324532 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:9213855:A:C
                            Gene:
                            OR7E24 (Varview), OR7D4 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            C=0.000005/1 (GnomAD_exomes)
                            C=0.00006/1 (TOMMO)
                            HGVS:
                            14.

                            rs1481628176 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              19:9214250 (GRCh38)
                              19:9324926 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:9214249:G:A
                              Gene:
                              OR7E24 (Varview), OR7D4 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1480918420 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                19:9213736 (GRCh38)
                                19:9324412 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:9213735:T:C
                                Gene:
                                OR7E24 (Varview), OR7D4 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1478977234 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  19:9216138 (GRCh38)
                                  19:9326814 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:9216137:C:T
                                  Gene:
                                  OR7E24 (Varview), OR7D4 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_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:
                                  17.

                                  rs1478634217 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    19:9216525 (GRCh38)
                                    19:9327201 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:9216524:T:C
                                    Gene:
                                    OR7E24 (Varview), OR7D4 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000071/1 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    C=0.000019/5 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1478183459 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      19:9214793 (GRCh38)
                                      19:9325469 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:9214792:C:T
                                      Gene:
                                      OR7E24 (Varview), OR7D4 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0.0002/2 (ALFA)
                                      HGVS:
                                      19.

                                      rs1477366061 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        19:9215374 (GRCh38)
                                        19:9326050 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:9215373:T:A
                                        Gene:
                                        OR7E24 (Varview), OR7D4 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000071/1 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1475353052 [Homo sapiens]
                                          Variant type:
                                          SNV:
                                          Alleles:
                                          T>-
                                          Chromosome:
                                          no mapping
                                          Canonical SPDI:

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