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1.

rs1491481436 has merged into rs57310501 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    13:98178200 (GRCh38)
    13:98830454 (GRCh37)
    Canonical SPDI:
    NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    FARP1 (Varview), RNF113B (Varview)
    Functional Consequence:
    upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTT=0./0 (ALFA)
    TTT=0.268/1342 (1000Genomes)
    HGVS:
    NC_000013.11:g.98178200_98178213del, NC_000013.11:g.98178201_98178213del, NC_000013.11:g.98178203_98178213del, NC_000013.11:g.98178204_98178213del, NC_000013.11:g.98178205_98178213del, NC_000013.11:g.98178206_98178213del, NC_000013.11:g.98178207_98178213del, NC_000013.11:g.98178208_98178213del, NC_000013.11:g.98178209_98178213del, NC_000013.11:g.98178210_98178213del, NC_000013.11:g.98178211_98178213del, NC_000013.11:g.98178212_98178213del, NC_000013.11:g.98178213del, NC_000013.11:g.98178213dup, NC_000013.11:g.98178212_98178213dup, NC_000013.11:g.98178211_98178213dup, NC_000013.11:g.98178210_98178213dup, NC_000013.11:g.98178208_98178213dup, NC_000013.11:g.98178207_98178213dup, NC_000013.11:g.98178204_98178213dup, NC_000013.11:g.98178213_98178214insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.98830454_98830467del, NC_000013.10:g.98830455_98830467del, NC_000013.10:g.98830457_98830467del, NC_000013.10:g.98830458_98830467del, NC_000013.10:g.98830459_98830467del, NC_000013.10:g.98830460_98830467del, NC_000013.10:g.98830461_98830467del, NC_000013.10:g.98830462_98830467del, NC_000013.10:g.98830463_98830467del, NC_000013.10:g.98830464_98830467del, NC_000013.10:g.98830465_98830467del, NC_000013.10:g.98830466_98830467del, NC_000013.10:g.98830467del, NC_000013.10:g.98830467dup, NC_000013.10:g.98830466_98830467dup, NC_000013.10:g.98830465_98830467dup, NC_000013.10:g.98830464_98830467dup, NC_000013.10:g.98830462_98830467dup, NC_000013.10:g.98830461_98830467dup, NC_000013.10:g.98830458_98830467dup, NC_000013.10:g.98830467_98830468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    2.

    rs1491465558 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AT>- [Show Flanks]
      Chromosome:
      13:98178189 (GRCh38)
      13:98830443 (GRCh37)
      Canonical SPDI:
      NC_000013.11:98178188:AT:
      Gene:
      FARP1 (Varview), RNF113B (Varview)
      Functional Consequence:
      intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:
      3.

      rs1489445356 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        13:98176663 (GRCh38)
        13:98828917 (GRCh37)
        Canonical SPDI:
        NC_000013.11:98176662:G:C
        Gene:
        FARP1 (Varview), RNF113B (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1488676825 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          13:98177515 (GRCh38)
          13:98829769 (GRCh37)
          Canonical SPDI:
          NC_000013.11:98177514:C:T
          Gene:
          FARP1 (Varview), RNF113B (Varview)
          Functional Consequence:
          intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000014/2 (GnomAD)
          T=0.000038/10 (TOPMED)
          HGVS:
          5.

          rs1488430628 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ATC>- [Show Flanks]
            Chromosome:
            13:98178872 (GRCh38)
            13:98831126 (GRCh37)
            Canonical SPDI:
            NC_000013.11:98178868:ATCATC:ATC
            Gene:
            FARP1 (Varview), RNF113B (Varview)
            Functional Consequence:
            intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            ATCATC=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1486472956 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              G>- [Show Flanks]
              Chromosome:
              13:98178143 (GRCh38)
              13:98830397 (GRCh37)
              Canonical SPDI:
              NC_000013.11:98178142:GG:G
              Gene:
              FARP1 (Varview), RNF113B (Varview)
              Functional Consequence:
              intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              GG=0.000071/1 (ALFA)
              -=0./0 (GnomAD)
              -=0.000011/3 (TOPMED)
              HGVS:
              7.

              rs1486422458 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                13:98177363 (GRCh38)
                13:98829617 (GRCh37)
                Canonical SPDI:
                NC_000013.11:98177362:T:C
                Gene:
                FARP1 (Varview), RNF113B (Varview)
                Functional Consequence:
                intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1485308959 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  13:98178742 (GRCh38)
                  13:98830996 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:98178741:C:T
                  Gene:
                  FARP1 (Varview), RNF113B (Varview)
                  Functional Consequence:
                  intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1485257474 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    13:98177937 (GRCh38)
                    13:98830191 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:98177936:G:A
                    Gene:
                    FARP1 (Varview), RNF113B (Varview)
                    Functional Consequence:
                    intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1484928916 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      13:98177779 (GRCh38)
                      13:98830033 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:98177778:A:G
                      Gene:
                      FARP1 (Varview), RNF113B (Varview)
                      Functional Consequence:
                      intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0.000071/1 (ALFA)
                      G=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1483615000 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        CC>- [Show Flanks]
                        Chromosome:
                        13:98178170 (GRCh38)
                        13:98830424 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:98178169:CC:
                        Gene:
                        FARP1 (Varview), RNF113B (Varview)
                        Functional Consequence:
                        intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        -=0.000071/1 (ALFA)
                        -=0.000015/4 (TOPMED)
                        -=0.000029/4 (GnomAD)
                        HGVS:
                        12.

                        rs1483523832 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          13:98176018 (GRCh38)
                          13:98828272 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:98176017:A:G
                          Gene:
                          FARP1 (Varview), RNF113B (Varview)
                          Functional Consequence:
                          intron_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000019/5 (TOPMED)
                          G=0.000021/3 (GnomAD)
                          HGVS:
                          13.

                          rs1483049124 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            13:98177921 (GRCh38)
                            13:98830175 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:98177920:A:G
                            Gene:
                            FARP1 (Varview), RNF113B (Varview)
                            Functional Consequence:
                            intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000142/2 (ALFA)
                            G=0.000014/2 (GnomAD)
                            G=0.000015/4 (TOPMED)
                            HGVS:
                            14.

                            rs1482959307 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              13:98175744 (GRCh38)
                              13:98827998 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:98175743:C:G
                              Gene:
                              FARP1 (Varview), RNF113B (Varview)
                              Functional Consequence:
                              intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.000162/3 (ALFA)
                              G=0.000014/2 (GnomAD)
                              G=0.000045/12 (TOPMED)
                              G=0.00067/3 (Estonian)
                              HGVS:
                              15.

                              rs1482387883 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                13:98177055 (GRCh38)
                                13:98829309 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:98177054:C:G,NC_000013.11:98177054:C:T
                                Gene:
                                FARP1 (Varview), RNF113B (Varview)
                                Functional Consequence:
                                intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.000051/1 (ALFA)
                                T=0./0 (GnomAD)
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1482213267 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A,G [Show Flanks]
                                  Chromosome:
                                  13:98175970 (GRCh38)
                                  13:98828224 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:98175969:T:A,NC_000013.11:98175969:T:G
                                  Gene:
                                  FARP1 (Varview), RNF113B (Varview)
                                  Functional Consequence:
                                  intron_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1481898223 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    13:98177441 (GRCh38)
                                    13:98829695 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:98177440:G:C
                                    Gene:
                                    FARP1 (Varview), RNF113B (Varview)
                                    Functional Consequence:
                                    intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000015/4 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1481767752 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      13:98177126 (GRCh38)
                                      13:98829380 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:98177125:C:T
                                      Gene:
                                      FARP1 (Varview), RNF113B (Varview)
                                      Functional Consequence:
                                      intron_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1480171128 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        13:98179199 (GRCh38)
                                        13:98831453 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:98179198:C:T
                                        Gene:
                                        FARP1 (Varview), RNF113B (Varview)
                                        Functional Consequence:
                                        intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000142/2 (ALFA)
                                        T=0.000023/6 (TOPMED)
                                        T=0.000048/6 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1479834714 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          13:98175734 (GRCh38)
                                          13:98827988 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:98175733:T:C
                                          Gene:
                                          FARP1 (Varview), RNF113B (Varview)
                                          Functional Consequence:
                                          intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_upstream_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:

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