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Links from Gene

Items: 1 to 20 of 821

1.

rs1491434070 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CT>- [Show Flanks]
    Chromosome:
    1:248239016 (GRCh38)
    1:248402318 (GRCh37)
    Canonical SPDI:
    NC_000001.11:248239012:TCTCT:TCT
    Gene:
    OR2M4 (Varview)
    Functional Consequence:
    frameshift_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    -=0.000004/1 (GnomAD_exomes)
    -=0.000008/1 (ExAC)
    HGVS:
    2.

    rs1487132498 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A,G [Show Flanks]
      Chromosome:
      1:248240206 (GRCh38)
      1:248403508 (GRCh37)
      Canonical SPDI:
      NC_000001.11:248240205:T:A,NC_000001.11:248240205:T:G
      Gene:
      OR2M4 (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      G=0.00004/1 (TOMMO)
      HGVS:
      3.

      rs1485408508 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        1:248239891 (GRCh38)
        1:248403193 (GRCh37)
        Canonical SPDI:
        NC_000001.11:248239890:A:G
        Gene:
        OR2M4 (Varview)
        Functional Consequence:
        3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.000071/1 (ALFA)
        G=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1484856374 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          T>- [Show Flanks]
          Chromosome:
          1:248238065 (GRCh38)
          1:248401367 (GRCh37)
          Canonical SPDI:
          NC_000001.11:248238064:T:
          Gene:
          OR2M4 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0./0 (ALFA)
          -=0.000007/1 (GnomAD)
          -=0.000026/7 (TOPMED)
          HGVS:
          5.

          rs1481345947 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            1:248239508 (GRCh38)
            1:248402810 (GRCh37)
            Canonical SPDI:
            NC_000001.11:248239507:G:A,NC_000001.11:248239507:G:T
            Gene:
            OR2M4 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1480718557 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              1:248239429 (GRCh38)
              1:248402731 (GRCh37)
              Canonical SPDI:
              NC_000001.11:248239428:T:G
              Gene:
              OR2M4 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000011/3 (TOPMED)
              HGVS:
              7.

              rs1480366785 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AACT>- [Show Flanks]
                Chromosome:
                1:248237052 (GRCh38)
                1:248400354 (GRCh37)
                Canonical SPDI:
                NC_000001.11:248237049:CTAACT:CT
                Gene:
                OR2M4 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                CT=0.000071/1 (ALFA)
                -=0.000034/9 (TOPMED)
                -=0.00005/7 (GnomAD)
                HGVS:
                8.

                rs1480120301 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  1:248239450 (GRCh38)
                  1:248402752 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:248239449:T:G
                  Gene:
                  OR2M4 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000045/2 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  G=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1479781643 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    1:248237787 (GRCh38)
                    1:248401089 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:248237786:A:G
                    Gene:
                    OR2M4 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    G=0.000023/6 (TOPMED)
                    HGVS:
                    10.

                    rs1479183005 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      1:248237737 (GRCh38)
                      1:248401039 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:248237736:T:C
                      Gene:
                      OR2M4 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000008/2 (TOPMED)
                      C=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1478835492 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        GAA>- [Show Flanks]
                        Chromosome:
                        1:248237978 (GRCh38)
                        1:248401280 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:248237972:AAGAAGAA:AAGAA
                        Gene:
                        OR2M4 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAGAA=0.000071/1 (ALFA)
                        -=0.000029/4 (GnomAD)
                        -=0.00006/16 (TOPMED)
                        -=0.000312/2 (1000Genomes)
                        HGVS:
                        12.

                        rs1478040399 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,G [Show Flanks]
                          Chromosome:
                          1:248237671 (GRCh38)
                          1:248400973 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:248237670:C:A,NC_000001.11:248237670:C:G
                          Gene:
                          OR2M4 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          A=0.000029/4 (GnomAD)
                          HGVS:
                          13.

                          rs1477747481 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            1:248239922 (GRCh38)
                            1:248403224 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:248239921:A:T
                            Gene:
                            OR2M4 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1477655585 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              1:248238957 (GRCh38)
                              1:248402259 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:248238956:C:A
                              Gene:
                              OR2M4 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1476951043 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                1:248239839 (GRCh38)
                                1:248403141 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:248239838:T:C
                                Gene:
                                OR2M4 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.0002/1 (ALFA)
                                C=0.0002/1 (Estonian)
                                HGVS:
                                16.

                                rs1475376375 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  1:248238760 (GRCh38)
                                  1:248402062 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:248238759:T:C
                                  Gene:
                                  OR2M4 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1475180324 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    1:248239824 (GRCh38)
                                    1:248403126 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:248239823:G:A,NC_000001.11:248239823:G:C
                                    Gene:
                                    OR2M4 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1474465773 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      1:248238506 (GRCh38)
                                      1:248401808 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:248238505:A:T
                                      Gene:
                                      OR2M4 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.000021/3 (GnomAD)
                                      T=0.000023/6 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1470714413 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        1:248238195 (GRCh38)
                                        1:248401497 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:248238194:A:G
                                        Gene:
                                        OR2M4 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000019/5 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1469537291 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          1:248237507 (GRCh38)
                                          1:248400809 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:248237506:G:C
                                          Gene:
                                          OR2M4 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:

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