U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Nucleotide

Items: 1 to 20 of 47451

1.

rs1491588964 has merged into rs144246158 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    17:16106898 (GRCh38)
    17:16010212 (GRCh37)
    Canonical SPDI:
    NC_000017.11:16106883:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:16106883:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:16106883:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:16106883:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:16106883:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:16106883:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:16106883:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:16106883:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:16106883:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:16106883:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:16106883:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:16106883:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:16106883:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:16106883:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:16106883:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:16106883:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:16106883:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:16106883:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:16106883:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:16106883:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:16106883:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:16106883:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    NCOR1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTT=0./0 (ALFA)
    -=0.0121/13 (Korea1K)
    HGVS:
    NC_000017.11:g.16106898_16106912del, NC_000017.11:g.16106899_16106912del, NC_000017.11:g.16106900_16106912del, NC_000017.11:g.16106901_16106912del, NC_000017.11:g.16106902_16106912del, NC_000017.11:g.16106903_16106912del, NC_000017.11:g.16106904_16106912del, NC_000017.11:g.16106905_16106912del, NC_000017.11:g.16106906_16106912del, NC_000017.11:g.16106907_16106912del, NC_000017.11:g.16106908_16106912del, NC_000017.11:g.16106909_16106912del, NC_000017.11:g.16106910_16106912del, NC_000017.11:g.16106911_16106912del, NC_000017.11:g.16106912del, NC_000017.11:g.16106912dup, NC_000017.11:g.16106911_16106912dup, NC_000017.11:g.16106910_16106912dup, NC_000017.11:g.16106909_16106912dup, NC_000017.11:g.16106908_16106912dup, NC_000017.11:g.16106907_16106912dup, NC_000017.11:g.16106904_16106912dup, NC_000017.10:g.16010212_16010226del, NC_000017.10:g.16010213_16010226del, NC_000017.10:g.16010214_16010226del, NC_000017.10:g.16010215_16010226del, NC_000017.10:g.16010216_16010226del, NC_000017.10:g.16010217_16010226del, NC_000017.10:g.16010218_16010226del, NC_000017.10:g.16010219_16010226del, NC_000017.10:g.16010220_16010226del, NC_000017.10:g.16010221_16010226del, NC_000017.10:g.16010222_16010226del, NC_000017.10:g.16010223_16010226del, NC_000017.10:g.16010224_16010226del, NC_000017.10:g.16010225_16010226del, NC_000017.10:g.16010226del, NC_000017.10:g.16010226dup, NC_000017.10:g.16010225_16010226dup, NC_000017.10:g.16010224_16010226dup, NC_000017.10:g.16010223_16010226dup, NC_000017.10:g.16010222_16010226dup, NC_000017.10:g.16010221_16010226dup, NC_000017.10:g.16010218_16010226dup, NG_047111.1:g.114849_114863del, NG_047111.1:g.114850_114863del, NG_047111.1:g.114851_114863del, NG_047111.1:g.114852_114863del, NG_047111.1:g.114853_114863del, NG_047111.1:g.114854_114863del, NG_047111.1:g.114855_114863del, NG_047111.1:g.114856_114863del, NG_047111.1:g.114857_114863del, NG_047111.1:g.114858_114863del, NG_047111.1:g.114859_114863del, NG_047111.1:g.114860_114863del, NG_047111.1:g.114861_114863del, NG_047111.1:g.114862_114863del, NG_047111.1:g.114863del, NG_047111.1:g.114863dup, NG_047111.1:g.114862_114863dup, NG_047111.1:g.114861_114863dup, NG_047111.1:g.114860_114863dup, NG_047111.1:g.114859_114863dup, NG_047111.1:g.114858_114863dup, NG_047111.1:g.114855_114863dup
    2.

    rs1491587114 has merged into rs745612477 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AT>-,ATAT [Show Flanks]
      Chromosome:
      17:16181211 (GRCh38)
      17:16084525 (GRCh37)
      Canonical SPDI:
      NC_000017.11:16181209:TAT:T,NC_000017.11:16181209:TAT:TATAT
      Gene:
      NCOR1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TATAT=0./0 (ALFA)
      -=0.00021/4 (TOMMO)
      HGVS:
      3.

      rs1491568708 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GT>- [Show Flanks]
        Chromosome:
        17:16127317 (GRCh38)
        17:16030631 (GRCh37)
        Canonical SPDI:
        NC_000017.11:16127315:TGT:T
        Gene:
        NCOR1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        HGVS:
        4.

        rs1491563263 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GT>- [Show Flanks]
          Chromosome:
          17:16127373 (GRCh38)
          17:16030687 (GRCh37)
          Canonical SPDI:
          NC_000017.11:16127371:TGT:T
          Gene:
          NCOR1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0.00008/1 (ALFA)
          -=0.00011/8 (GnomAD)
          HGVS:
          5.

          rs1491562975 has merged into rs1263494908 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            GTGT>-,GT,GTGTGT [Show Flanks]
            Chromosome:
            17:16127259 (GRCh38)
            17:16030573 (GRCh37)
            Canonical SPDI:
            NC_000017.11:16127253:TGTGTGTGT:TGTGT,NC_000017.11:16127253:TGTGTGTGT:TGTGTGT,NC_000017.11:16127253:TGTGTGTGT:TGTGTGTGTGT
            Gene:
            NCOR1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TGTGTGTGTGT=0./0 (ALFA)
            -=0.00833/5 (NorthernSweden)
            HGVS:
            6.

            rs1491557417 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->GTGTAT [Show Flanks]
              Chromosome:
              17:16127579 (GRCh38)
              17:16030894 (GRCh37)
              Canonical SPDI:
              NC_000017.11:16127579:TATGTGTAT:TATGTGTATGTGTAT
              Gene:
              NCOR1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TATGTGTATGTGTAT=0./0 (ALFA)
              TATGTG=0.00004/1 (TOMMO)
              HGVS:
              7.

              rs1491551148 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GT>-,GTGT [Show Flanks]
                Chromosome:
                17:16127345 (GRCh38)
                17:16030659 (GRCh37)
                Canonical SPDI:
                NC_000017.11:16127343:TGT:T,NC_000017.11:16127343:TGT:TGTGT
                Gene:
                NCOR1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.00008/1 (ALFA)
                HGVS:
                8.

                rs1491545404 has merged into rs71353770 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                  Chromosome:
                  17:16114157 (GRCh38)
                  17:16017471 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:16114143:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:16114143:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:16114143:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:16114143:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:16114143:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:16114143:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:16114143:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:16114143:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:16114143:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16114143:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16114143:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16114143:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16114143:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16114143:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16114143:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16114143:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16114143:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16114143:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16114143:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16114143:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16114143:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16114143:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16114143:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16114143:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16114143:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16114143:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                  Gene:
                  NCOR1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAAAAAAAA=0./0 (ALFA)
                  -=0.00006/16 (TOPMED)
                  HGVS:
                  NC_000017.11:g.16114157_16114169del, NC_000017.11:g.16114158_16114169del, NC_000017.11:g.16114159_16114169del, NC_000017.11:g.16114160_16114169del, NC_000017.11:g.16114161_16114169del, NC_000017.11:g.16114162_16114169del, NC_000017.11:g.16114163_16114169del, NC_000017.11:g.16114164_16114169del, NC_000017.11:g.16114165_16114169del, NC_000017.11:g.16114166_16114169del, NC_000017.11:g.16114167_16114169del, NC_000017.11:g.16114168_16114169del, NC_000017.11:g.16114169del, NC_000017.11:g.16114169dup, NC_000017.11:g.16114168_16114169dup, NC_000017.11:g.16114167_16114169dup, NC_000017.11:g.16114165_16114169dup, NC_000017.11:g.16114164_16114169dup, NC_000017.11:g.16114163_16114169dup, NC_000017.11:g.16114162_16114169dup, NC_000017.11:g.16114161_16114169dup, NC_000017.11:g.16114160_16114169dup, NC_000017.11:g.16114159_16114169dup, NC_000017.11:g.16114158_16114169dup, NC_000017.11:g.16114157_16114169dup, NC_000017.11:g.16114156_16114169dup, NC_000017.10:g.16017471_16017483del, NC_000017.10:g.16017472_16017483del, NC_000017.10:g.16017473_16017483del, NC_000017.10:g.16017474_16017483del, NC_000017.10:g.16017475_16017483del, NC_000017.10:g.16017476_16017483del, NC_000017.10:g.16017477_16017483del, NC_000017.10:g.16017478_16017483del, NC_000017.10:g.16017479_16017483del, NC_000017.10:g.16017480_16017483del, NC_000017.10:g.16017481_16017483del, NC_000017.10:g.16017482_16017483del, NC_000017.10:g.16017483del, NC_000017.10:g.16017483dup, NC_000017.10:g.16017482_16017483dup, NC_000017.10:g.16017481_16017483dup, NC_000017.10:g.16017479_16017483dup, NC_000017.10:g.16017478_16017483dup, NC_000017.10:g.16017477_16017483dup, NC_000017.10:g.16017476_16017483dup, NC_000017.10:g.16017475_16017483dup, NC_000017.10:g.16017474_16017483dup, NC_000017.10:g.16017473_16017483dup, NC_000017.10:g.16017472_16017483dup, NC_000017.10:g.16017471_16017483dup, NC_000017.10:g.16017470_16017483dup, NG_047111.1:g.107591_107603del, NG_047111.1:g.107592_107603del, NG_047111.1:g.107593_107603del, NG_047111.1:g.107594_107603del, NG_047111.1:g.107595_107603del, NG_047111.1:g.107596_107603del, NG_047111.1:g.107597_107603del, NG_047111.1:g.107598_107603del, NG_047111.1:g.107599_107603del, NG_047111.1:g.107600_107603del, NG_047111.1:g.107601_107603del, NG_047111.1:g.107602_107603del, NG_047111.1:g.107603del, NG_047111.1:g.107603dup, NG_047111.1:g.107602_107603dup, NG_047111.1:g.107601_107603dup, NG_047111.1:g.107599_107603dup, NG_047111.1:g.107598_107603dup, NG_047111.1:g.107597_107603dup, NG_047111.1:g.107596_107603dup, NG_047111.1:g.107595_107603dup, NG_047111.1:g.107594_107603dup, NG_047111.1:g.107593_107603dup, NG_047111.1:g.107592_107603dup, NG_047111.1:g.107591_107603dup, NG_047111.1:g.107590_107603dup
                  9.

                  rs1491545373 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->AC [Show Flanks]
                    Chromosome:
                    17:16127444 (GRCh38)
                    17:16030759 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:16127444::AC
                    Gene:
                    NCOR1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    AC=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1491544746 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      CT>- [Show Flanks]
                      Chromosome:
                      17:16081169 (GRCh38)
                      17:15984483 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:16081168:CT:
                      Gene:
                      NCOR1 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      -=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      -=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1491542778 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        GTGT>-,GT [Show Flanks]
                        Chromosome:
                        17:16127431 (GRCh38)
                        17:16030745 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:16127429:TGTGT:T,NC_000017.11:16127429:TGTGT:TGT
                        Gene:
                        NCOR1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TGT=0./0 (ALFA)
                        -=0.000071/1 (TOMMO)
                        -=0.000123/15 (GnomAD)
                        HGVS:
                        12.

                        rs1491530467 has merged into rs112981020 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          CT>- [Show Flanks]
                          Chromosome:
                          17:16127213 (GRCh38)
                          17:16030527 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:16127211:TCT:T
                          Gene:
                          NCOR1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.010959/130 (ALFA)
                          -=0.000106/2 (TOMMO)
                          -=0.000979/117 (GnomAD)
                          HGVS:
                          13.

                          rs1491515082 [Homo sapiens]
                            Variant type:
                            INS
                            Alleles:
                            ->C [Show Flanks]
                            Chromosome:
                            17:16052193 (GRCh38)
                            17:15955508 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:16052193::C
                            Gene:
                            NCOR1 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000093/12 (GnomAD)
                            C=0.000128/34 (TOPMED)
                            HGVS:
                            14.

                            rs1491511665 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              GT>-,GTGT [Show Flanks]
                              Chromosome:
                              17:16127313 (GRCh38)
                              17:16030627 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:16127311:TGT:T,NC_000017.11:16127311:TGT:TGTGT
                              Gene:
                              NCOR1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TGTGT=0.03026/359 (ALFA)
                              -=0.00003/1 (GnomAD)
                              HGVS:
                              15.

                              rs1491497676 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                CT>- [Show Flanks]
                                Chromosome:
                                17:16052192 (GRCh38)
                                17:15955506 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:16052190:TCT:T
                                Gene:
                                NCOR1 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1491490186 [Homo sapiens]
                                  Variant type:
                                  SNV:
                                  Alleles:
                                  ->AGTAAAGAAAAAAAAAAAAAA
                                  Chromosome:
                                  no mapping
                                  Canonical SPDI:
                                  17.

                                  rs1491485178 [Homo sapiens]
                                    Variant type:
                                    INS
                                    Alleles:
                                    ->A,AAAA,TAAA [Show Flanks]
                                    Chromosome:
                                    17:16199203 (GRCh38)
                                    17:16102518 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:16199203::A,NC_000017.11:16199203::AAAA,NC_000017.11:16199203::TAAA
                                    Gene:
                                    NCOR1 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AAAA=0./0 (ALFA)
                                    TAAA=0.00011/2 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1491461948 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      GG>- [Show Flanks]
                                      Chromosome:
                                      17:16199203 (GRCh38)
                                      17:16102517 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:16199202:GG:
                                      Gene:
                                      NCOR1 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      -=0./0 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1491460998 [Homo sapiens]
                                        Variant type:
                                        INS
                                        Alleles:
                                        ->G [Show Flanks]
                                        Chromosome:
                                        17:16136807 (GRCh38)
                                        17:16040122 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:16136807::G
                                        Gene:
                                        NCOR1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1491460150 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          CT>- [Show Flanks]
                                          Chromosome:
                                          17:16199244 (GRCh38)
                                          17:16102558 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:16199243:CT:
                                          Gene:
                                          NCOR1 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          -=0.000084/1 (ALFA)
                                          -=0.00003/4 (GnomAD)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Find related data

                                          Recent activity