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Items: 1 to 20 of 18221

1.

rs1491450611 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    9:122605328 (GRCh38)
    9:125367607 (GRCh37)
    Canonical SPDI:
    NC_000009.12:122605327:CA:
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    HGVS:
    2.

    rs1491282024 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->A,C [Show Flanks]
      Chromosome:
      9:122659573 (GRCh38)
      9:125421853 (GRCh37)
      Canonical SPDI:
      NC_000009.12:122659573::A,NC_000009.12:122659573::C
      Gene:
      OR1B1 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      A=0.00008/2 (GnomAD)
      HGVS:
      3.

      rs1491272133 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        GA>- [Show Flanks]
        Chromosome:
        9:122587138 (GRCh38)
        9:125349417 (GRCh37)
        Canonical SPDI:
        NC_000009.12:122587137:GA:
        Validated:
        by frequency,by alfa
        MAF:
        -=0.00008/1 (ALFA)
        HGVS:
        4.

        rs1491167147 has merged into rs35316590 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          9:122659586 (GRCh38)
          9:125421865 (GRCh37)
          Canonical SPDI:
          NC_000009.12:122659572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:122659572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:122659572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:122659572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:122659572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:122659572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:122659572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122659572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122659572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122659572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122659572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122659572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122659572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          OR1B1 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTTTTT=0./0 (ALFA)
          HGVS:
          NC_000009.12:g.122659586_122659591del, NC_000009.12:g.122659587_122659591del, NC_000009.12:g.122659589_122659591del, NC_000009.12:g.122659590_122659591del, NC_000009.12:g.122659591del, NC_000009.12:g.122659591dup, NC_000009.12:g.122659590_122659591dup, NC_000009.12:g.122659589_122659591dup, NC_000009.12:g.122659588_122659591dup, NC_000009.12:g.122659587_122659591dup, NC_000009.12:g.122659586_122659591dup, NC_000009.12:g.122659585_122659591dup, NC_000009.12:g.122659584_122659591dup, NC_000009.11:g.125421865_125421870del, NC_000009.11:g.125421866_125421870del, NC_000009.11:g.125421868_125421870del, NC_000009.11:g.125421869_125421870del, NC_000009.11:g.125421870del, NC_000009.11:g.125421870dup, NC_000009.11:g.125421869_125421870dup, NC_000009.11:g.125421868_125421870dup, NC_000009.11:g.125421867_125421870dup, NC_000009.11:g.125421866_125421870dup, NC_000009.11:g.125421865_125421870dup, NC_000009.11:g.125421864_125421870dup, NC_000009.11:g.125421863_125421870dup, NG_034002.1:g.2871_2876del, NG_034002.1:g.2872_2876del, NG_034002.1:g.2874_2876del, NG_034002.1:g.2875_2876del, NG_034002.1:g.2876del, NG_034002.1:g.2876dup, NG_034002.1:g.2875_2876dup, NG_034002.1:g.2874_2876dup, NG_034002.1:g.2873_2876dup, NG_034002.1:g.2872_2876dup, NG_034002.1:g.2871_2876dup, NG_034002.1:g.2870_2876dup, NG_034002.1:g.2869_2876dup
          5.

          rs1491054540 has merged into rs34815159 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            9:122605339 (GRCh38)
            9:125367618 (GRCh37)
            Canonical SPDI:
            NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAA=0./0 (ALFA)
            HGVS:
            NC_000009.12:g.122605339_122605349del, NC_000009.12:g.122605340_122605349del, NC_000009.12:g.122605341_122605349del, NC_000009.12:g.122605342_122605349del, NC_000009.12:g.122605344_122605349del, NC_000009.12:g.122605345_122605349del, NC_000009.12:g.122605346_122605349del, NC_000009.12:g.122605347_122605349del, NC_000009.12:g.122605348_122605349del, NC_000009.12:g.122605349del, NC_000009.12:g.122605349dup, NC_000009.12:g.122605348_122605349dup, NC_000009.12:g.122605347_122605349dup, NC_000009.12:g.122605346_122605349dup, NC_000009.12:g.122605345_122605349dup, NC_000009.12:g.122605344_122605349dup, NC_000009.12:g.122605343_122605349dup, NC_000009.12:g.122605342_122605349dup, NC_000009.12:g.122605349_122605350insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.125367618_125367628del, NC_000009.11:g.125367619_125367628del, NC_000009.11:g.125367620_125367628del, NC_000009.11:g.125367621_125367628del, NC_000009.11:g.125367623_125367628del, NC_000009.11:g.125367624_125367628del, NC_000009.11:g.125367625_125367628del, NC_000009.11:g.125367626_125367628del, NC_000009.11:g.125367627_125367628del, NC_000009.11:g.125367628del, NC_000009.11:g.125367628dup, NC_000009.11:g.125367627_125367628dup, NC_000009.11:g.125367626_125367628dup, NC_000009.11:g.125367625_125367628dup, NC_000009.11:g.125367624_125367628dup, NC_000009.11:g.125367623_125367628dup, NC_000009.11:g.125367622_125367628dup, NC_000009.11:g.125367621_125367628dup, NC_000009.11:g.125367628_125367629insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            6.

            rs1491021020 has merged into rs34388109 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
              Chromosome:
              9:122626381 (GRCh38)
              9:125388660 (GRCh37)
              Canonical SPDI:
              NC_000009.12:122626372:TTTTTTTTTT:TTTTTTTT,NC_000009.12:122626372:TTTTTTTTTT:TTTTTTTTT,NC_000009.12:122626372:TTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:122626372:TTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:122626372:TTTTTTTTTT:TTTTTTTTTTTTT
              Gene:
              LOC124902265 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTTTTT=0./0 (ALFA)
              T=0.375/15 (GENOME_DK)
              T=0.3967/238 (NorthernSweden)
              T=0.4398/1695 (ALSPAC)
              T=0.445/1650 (TWINSUK)
              T=0.4508/2015 (Estonian)
              T=0.4545/2149 (1000Genomes)
              HGVS:
              7.

              rs1491000030 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                9:122628561 (GRCh38)
                9:125390840 (GRCh37)
                Canonical SPDI:
                NC_000009.12:122628560:T:C
                Gene:
                OR1B1 (Varview), LOC124902265 (Varview)
                Functional Consequence:
                intron_variant,3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000071/1 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1490988486 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->G [Show Flanks]
                  Chromosome:
                  9:122595867 (GRCh38)
                  9:125358147 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:122595867:GG:GGG
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  GGG=0./0 (ALFA)
                  G=0.00005/7 (GnomAD)
                  G=0.000057/15 (TOPMED)
                  HGVS:
                  9.

                  rs1490981059 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    9:122610478 (GRCh38)
                    9:125372757 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:122610477:T:G
                    Gene:
                    LOC124902265 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    G=0.000011/3 (TOPMED)
                    HGVS:
                    10.

                    rs1490968956 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      9:122659261 (GRCh38)
                      9:125421540 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:122659260:T:C
                      Gene:
                      OR1B1 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000157/22 (GnomAD)
                      HGVS:
                      11.

                      rs1490899424 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        9:122649423 (GRCh38)
                        9:125411702 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:122649422:G:A
                        Gene:
                        OR1B1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000011/3 (TOPMED)
                        A=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1490899067 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          9:122603157 (GRCh38)
                          9:125365436 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:122603156:A:G
                          Validated:
                          by frequency
                          MAF:
                          G=0.000029/4 (GnomAD)
                          HGVS:
                          13.

                          rs1490830758 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            9:122632722 (GRCh38)
                            9:125395001 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:122632721:A:G
                            Gene:
                            OR1B1 (Varview), LOC124902265 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            G=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1490806149 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C,G [Show Flanks]
                              Chromosome:
                              9:122633671 (GRCh38)
                              9:125395950 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:122633670:T:C,NC_000009.12:122633670:T:G
                              Gene:
                              OR1B1 (Varview), LOC124902265 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1490754471 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->GA [Show Flanks]
                                Chromosome:
                                9:122634346 (GRCh38)
                                9:125396626 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:122634346:A:AGA
                                Gene:
                                OR1B1 (Varview), LOC124902265 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AGA=0./0 (ALFA)
                                AG=0.000004/1 (TOPMED)
                                AG=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1490690974 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TTAT>- [Show Flanks]
                                  Chromosome:
                                  9:122639769 (GRCh38)
                                  9:125402048 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:122639765:TATTTAT:TAT
                                  Gene:
                                  OR1B1 (Varview), LOC124902265 (Varview)
                                  Functional Consequence:
                                  500B_downstream_variant,downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TAT=0.000054/1 (ALFA)
                                  -=0.000023/6 (TOPMED)
                                  -=0.000051/7 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490643076 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    9:122640283 (GRCh38)
                                    9:125402562 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:122640282:T:C
                                    Gene:
                                    OR1B1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    C=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490637595 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      9:122589403 (GRCh38)
                                      9:125351682 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:122589402:G:A
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1490607684 has merged into rs370191871 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        TAT>-,TATTAT [Show Flanks]
                                        Chromosome:
                                        9:122590157 (GRCh38)
                                        9:125352436 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:122590146:TTATTATTATTAT:TTATTATTAT,NC_000009.12:122590146:TTATTATTATTAT:TTATTATTATTATTAT
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TTATTATTAT=0.00055/10 (ALFA)
                                        -=0.00167/1 (NorthernSweden)
                                        -=0.00179/8 (Estonian)
                                        -=0.00953/48 (1000Genomes)
                                        HGVS:
                                        20.

                                        rs1490584249 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C,T [Show Flanks]
                                          Chromosome:
                                          9:122601432 (GRCh38)
                                          9:125363711 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:122601431:G:C,NC_000009.12:122601431:G:T
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000014/2 (GnomAD)
                                          HGVS:

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