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Items: 1 to 20 of 3830

1.

rs1491080061 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->CTG [Show Flanks]
    Chromosome:
    2:130428058 (GRCh38)
    2:131185632 (GRCh37)
    Canonical SPDI:
    NC_000002.12:130428058:TG:TGCTG
    Gene:
    FAR2P2 (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    TGCTG=0.000169/2 (ALFA)
    TGC=0.00003/4 (GnomAD)
    HGVS:
    2.

    rs1490789295 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      2:130428744 (GRCh38)
      2:131186317 (GRCh37)
      Canonical SPDI:
      NC_000002.12:130428743:C:G,NC_000002.12:130428743:C:T
      Gene:
      FAR2P2 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1490787190 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        2:130419670 (GRCh38)
        2:131177243 (GRCh37)
        Canonical SPDI:
        NC_000002.12:130419669:A:G
        Gene:
        FAR2P2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1490753363 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          2:130429295 (GRCh38)
          2:131186868 (GRCh37)
          Canonical SPDI:
          NC_000002.12:130429294:G:A,NC_000002.12:130429294:G:C
          Gene:
          FAR2P2 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          HGVS:
          5.

          rs1490688402 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            2:130427911 (GRCh38)
            2:131185484 (GRCh37)
            Canonical SPDI:
            NC_000002.12:130427910:C:A,NC_000002.12:130427910:C:T
            Gene:
            FAR2P2 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            A=0.000011/3 (TOPMED)
            T=0.000342/1 (KOREAN)
            HGVS:
            6.

            rs1490524521 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              2:130428398 (GRCh38)
              2:131185971 (GRCh37)
              Canonical SPDI:
              NC_000002.12:130428397:G:A,NC_000002.12:130428397:G:C
              Gene:
              FAR2P2 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              A=0.000011/3 (TOPMED)
              A=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1490477602 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                2:130427261 (GRCh38)
                2:131184834 (GRCh37)
                Canonical SPDI:
                NC_000002.12:130427260:C:T
                Gene:
                FAR2P2 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0.000084/1 (ALFA)
                T=0.000033/4 (GnomAD)
                HGVS:
                8.

                rs1490420386 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->T [Show Flanks]
                  Chromosome:
                  2:130423809 (GRCh38)
                  2:131181383 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:130423809:T:TT
                  Gene:
                  FAR2P2 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TT=0.000071/1 (ALFA)
                  T=0.000023/6 (TOPMED)
                  T=0.00003/4 (GnomAD)
                  HGVS:
                  9.

                  rs1490368554 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    2:130424554 (GRCh38)
                    2:131182127 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:130424553:G:A,NC_000002.12:130424553:G:C
                    Gene:
                    FAR2P2 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1490198588 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      2:130427497 (GRCh38)
                      2:131185070 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:130427496:T:C
                      Gene:
                      FAR2P2 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0.000061/1 (ALFA)
                      C=0.000062/8 (GnomAD)
                      HGVS:
                      11.

                      rs1490188984 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C,G [Show Flanks]
                        Chromosome:
                        2:130424170 (GRCh38)
                        2:131181743 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:130424169:T:C,NC_000002.12:130424169:T:G
                        Gene:
                        FAR2P2 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1490159228 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G,T [Show Flanks]
                          Chromosome:
                          2:130425863 (GRCh38)
                          2:131183436 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:130425862:A:G,NC_000002.12:130425862:A:T
                          Gene:
                          FAR2P2 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1489988481 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            2:130426560 (GRCh38)
                            2:131184133 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:130426559:G:A
                            Gene:
                            FAR2P2 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1489865940 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,G [Show Flanks]
                              Chromosome:
                              2:130417549 (GRCh38)
                              2:131175122 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:130417548:C:A,NC_000002.12:130417548:C:G
                              Gene:
                              FAR2P2 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1489807492 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                2:130428435 (GRCh38)
                                2:131186008 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:130428434:T:C
                                Gene:
                                FAR2P2 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1489779273 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  2:130419350 (GRCh38)
                                  2:131176923 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:130419349:G:A
                                  Gene:
                                  FAR2P2 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0.000169/2 (ALFA)
                                  A=0.000072/10 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1489758755 has merged into rs528874370 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    G>-,GG [Show Flanks]
                                    Chromosome:
                                    2:130425357 (GRCh38)
                                    2:131182930 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:130425356:GGGGGGG:GGGGGG,NC_000002.12:130425356:GGGGGGG:GGGGGGGG
                                    Gene:
                                    FAR2P2 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    GGGGGGGG=0./0 (ALFA)
                                    -=0.01811/91 (1000Genomes)
                                    HGVS:
                                    18.

                                    rs1489727947 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      2:130426151 (GRCh38)
                                      2:131183724 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:130426150:C:T
                                      Gene:
                                      FAR2P2 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489665750 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        2:130417613 (GRCh38)
                                        2:131175186 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:130417612:A:T
                                        Gene:
                                        FAR2P2 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1489546712 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          2:130418020 (GRCh38)
                                          2:131175593 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:130418019:C:T
                                          Gene:
                                          FAR2P2 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000015/4 (TOPMED)
                                          T=0.000021/3 (GnomAD)
                                          HGVS:

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