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Links from Nucleotide

Items: 1 to 20 of 403

1.

rs1490940508 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    11:6107870 (GRCh38)
    11:6129100 (GRCh37)
    Canonical SPDI:
    NC_000011.10:6107869:A:G
    Gene:
    OR56B4 (Varview), LOC124902622 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    G=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1490742064 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      11:6108830 (GRCh38)
      11:6130060 (GRCh37)
      Canonical SPDI:
      NC_000011.10:6108829:C:T
      Gene:
      OR56B4 (Varview), LOC124902622 (Varview)
      Functional Consequence:
      3_prime_UTR_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000014/2 (GnomAD)
      T=0.000019/5 (TOPMED)
      HGVS:
      3.

      rs1487684441 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        11:6108123 (GRCh38)
        11:6129353 (GRCh37)
        Canonical SPDI:
        NC_000011.10:6108122:C:A
        Gene:
        OR56B4 (Varview), LOC124902622 (Varview)
        Functional Consequence:
        coding_sequence_variant,intron_variant,stop_gained
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1480764215 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          11:6107954 (GRCh38)
          11:6129184 (GRCh37)
          Canonical SPDI:
          NC_000011.10:6107953:C:A
          Gene:
          OR56B4 (Varview), LOC124902622 (Varview)
          Functional Consequence:
          intron_variant,coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000021/3 (GnomAD)
          A=0.000023/6 (TOPMED)
          HGVS:
          5.

          rs1478312235 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            11:6108286 (GRCh38)
            11:6129516 (GRCh37)
            Canonical SPDI:
            NC_000011.10:6108285:G:T
            Gene:
            OR56B4 (Varview), LOC124902622 (Varview)
            Functional Consequence:
            intron_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by cluster
            MAF:
            T=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1477694529 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              11:6107829 (GRCh38)
              11:6129059 (GRCh37)
              Canonical SPDI:
              NC_000011.10:6107828:G:A
              Gene:
              OR56B4 (Varview), LOC124902622 (Varview)
              Functional Consequence:
              intron_variant,coding_sequence_variant,synonymous_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1466487143 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                11:6107923 (GRCh38)
                11:6129153 (GRCh37)
                Canonical SPDI:
                NC_000011.10:6107922:C:G
                Gene:
                OR56B4 (Varview), LOC124902622 (Varview)
                Functional Consequence:
                intron_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000008/2 (TOPMED)
                G=0.000021/3 (GnomAD)
                HGVS:
                8.

                rs1463066751 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  GG>- [Show Flanks]
                  Chromosome:
                  11:6108408 (GRCh38)
                  11:6129638 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:6108406:GGG:G
                  Gene:
                  OR56B4 (Varview), LOC124902622 (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,frameshift_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  -=0.000004/1 (GnomAD_exomes)
                  -=0.000007/1 (GnomAD)
                  -=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1460926243 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    11:6107724 (GRCh38)
                    11:6128954 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:6107723:T:C
                    Gene:
                    OR56B4 (Varview), LOC124902622 (Varview)
                    Functional Consequence:
                    intron_variant,5_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1458346261 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      11:6108280 (GRCh38)
                      11:6129510 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:6108279:C:T
                      Gene:
                      OR56B4 (Varview), LOC124902622 (Varview)
                      Functional Consequence:
                      intron_variant,synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (GnomAD_exomes)
                      T=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1456269100 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C,T [Show Flanks]
                        Chromosome:
                        11:6108234 (GRCh38)
                        11:6129464 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:6108233:G:C,NC_000011.10:6108233:G:T
                        Gene:
                        OR56B4 (Varview), LOC124902622 (Varview)
                        Functional Consequence:
                        intron_variant,synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        C=0.000004/1 (GnomAD_exomes)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1446487378 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          11:6107931 (GRCh38)
                          11:6129161 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:6107930:C:G
                          Gene:
                          OR56B4 (Varview), LOC124902622 (Varview)
                          Functional Consequence:
                          intron_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (GnomAD_exomes)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1445875363 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            11:6108627 (GRCh38)
                            11:6129857 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:6108626:G:A
                            Gene:
                            OR56B4 (Varview), LOC124902622 (Varview)
                            Functional Consequence:
                            intron_variant,synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1445496212 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              CT>- [Show Flanks]
                              Chromosome:
                              11:6107711 (GRCh38)
                              11:6128941 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:6107710:CT:
                              Gene:
                              OR56B4 (Varview), LOC124902622 (Varview)
                              Functional Consequence:
                              intron_variant,5_prime_UTR_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              -=0.000071/1 (ALFA)
                              -=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1444139711 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                11:6107841 (GRCh38)
                                11:6129071 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:6107840:G:A
                                Gene:
                                OR56B4 (Varview), LOC124902622 (Varview)
                                Functional Consequence:
                                intron_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1442213067 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,T [Show Flanks]
                                  Chromosome:
                                  11:6107729 (GRCh38)
                                  11:6128959 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:6107728:C:A,NC_000011.10:6107728:C:T
                                  Gene:
                                  OR56B4 (Varview), LOC124902622 (Varview)
                                  Functional Consequence:
                                  intron_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000005/1 (GnomAD_exomes)
                                  T=0.000011/3 (TOPMED)
                                  T=0.000021/3 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1442091173 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    11:6108549 (GRCh38)
                                    11:6129779 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:6108548:C:T
                                    Gene:
                                    OR56B4 (Varview), LOC124902622 (Varview)
                                    Functional Consequence:
                                    intron_variant,synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1441992118 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      11:6108567 (GRCh38)
                                      11:6129797 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:6108566:G:A
                                      Gene:
                                      OR56B4 (Varview), LOC124902622 (Varview)
                                      Functional Consequence:
                                      intron_variant,synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000071/1 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1439670349 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        11:6108513 (GRCh38)
                                        11:6129743 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:6108512:C:A
                                        Gene:
                                        OR56B4 (Varview), LOC124902622 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1436773542 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          11:6108139 (GRCh38)
                                          11:6129369 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:6108138:T:A
                                          Gene:
                                          OR56B4 (Varview), LOC124902622 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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