SNP Links for Gene (Select 9690) - SNP

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Select item 14915651291.

rs1491565129 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CTAAC [Show Flanks]
Chromosome:: 7:157179980 (GRCh38)
7:156972675 (GRCh37)
Canonical SPDI:: NC_000007.14:157179980::C,NC_000007.14:157179980::CTAAC
Gene:: UBE3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTAAC=0./0 (ALFA)
C=0.000007/1 (GnomAD)
CTAAC=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.157179980_157179981insC, NC_000007.14:g.157179980_157179981insCTAAC, NC_000007.13:g.156972674_156972675insC, NC_000007.13:g.156972674_156972675insCTAAC

Select item 14915596482.

rs1491559648 has merged into rs369260120 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 7:157170135 (GRCh38)
7:156962829 (GRCh37)
Canonical SPDI:: NC_000007.14:157170134:C:
Gene:: UBE3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000139/19 (GnomAD)
HGVS:: NC_000007.14:g.157170135del, NC_000007.13:g.156962829del

Select item 14915397423.

rs1491539742 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:157201477 (GRCh38)
7:156994172 (GRCh37)
Canonical SPDI:: NC_000007.14:157201477:GGGG:GGGGG
Gene:: UBE3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.157201481dup, NC_000007.13:g.156994175dup

Select item 14915275204.

rs1491527520 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 7:157156713 (GRCh38)
7:156949407 (GRCh37)
Canonical SPDI:: NC_000007.14:157156712:TA:
Gene:: UBE3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000337/4 (ALFA)
-=0.000216/25 (GnomAD)
HGVS:: NC_000007.14:g.157156713_157156714del, NC_000007.13:g.156949407_156949408del

Select item 14915215245.

rs1491521524 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGAGAGAGAGAGAGAGAGAG,GGAGAG,GGAGAGAGAG,GGAGAGAGAGAGAGAG,GGAGAGAGAGAGAGAGAGAG,GGAGAGAGAGAGAGAGAGAGAG,GGAGAGAGAGAGAGAGAGAGAGAG [Show Flanks]
Chromosome:: 7:157211167 (GRCh38)
7:157003862 (GRCh37)
Canonical SPDI:: NC_000007.14:157211167:G:GGAGAGAGAGAGAGAGAGAGAG,NC_000007.14:157211167:G:GGGAGAG,NC_000007.14:157211167:G:GGGAGAGAGAG,NC_000007.14:157211167:G:GGGAGAGAGAGAGAGAG,NC_000007.14:157211167:G:GGGAGAGAGAGAGAGAGAGAG,NC_000007.14:157211167:G:GGGAGAGAGAGAGAGAGAGAGAG,NC_000007.14:157211167:G:GGGAGAGAGAGAGAGAGAGAGAGAG
Gene:: UBE3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGAGAGAGAG=0./0 (ALFA)
GGGAGAGAGAGAGAGAGAGAGA=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.157211168_157211169insGAGAGAGAGAGAGAGAGAGAG, NC_000007.14:g.157211168_157211169insGGAGAG, NC_000007.14:g.157211168_157211169insGGAGAGAGAG, NC_000007.14:g.157211168_157211169insGGAGAGAGAGAGAGAG, NC_000007.14:g.157211168_157211169insGGAGAGAGAGAGAGAGAGAG, NC_000007.14:g.157211168_157211169insGGAGAGAGAGAGAGAGAGAGAG, NC_000007.14:g.157211168_157211169insGGAGAGAGAGAGAGAGAGAGAGAG, NC_000007.13:g.157003862_157003863insGAGAGAGAGAGAGAGAGAGAG, NC_000007.13:g.157003862_157003863insGGAGAG, NC_000007.13:g.157003862_157003863insGGAGAGAGAG, NC_000007.13:g.157003862_157003863insGGAGAGAGAGAGAGAG, NC_000007.13:g.157003862_157003863insGGAGAGAGAGAGAGAGAGAG, NC_000007.13:g.157003862_157003863insGGAGAGAGAGAGAGAGAGAGAG, NC_000007.13:g.157003862_157003863insGGAGAGAGAGAGAGAGAGAGAGAG

Select item 14915158916.

rs1491515891 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGC [Show Flanks]
Chromosome:: 7:157264075 (GRCh38)
7:157056770 (GRCh37)
Canonical SPDI:: NC_000007.14:157264075:C:CGTGC
Gene:: UBE3C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CGTGC=0./0 (ALFA)
HGVS:: NC_000007.14:g.157264076_157264077insGTGC, NC_000007.13:g.157056770_157056771insGTGC

Select item 14915106947.

rs1491510694 has merged into rs77471740 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:157171698 (GRCh38)
7:156964392 (GRCh37)
Canonical SPDI:: NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: UBE3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.157171698_157171724del, NC_000007.14:g.157171699_157171724del, NC_000007.14:g.157171700_157171724del, NC_000007.14:g.157171701_157171724del, NC_000007.14:g.157171702_157171724del, NC_000007.14:g.157171703_157171724del, NC_000007.14:g.157171704_157171724del, NC_000007.14:g.157171705_157171724del, NC_000007.14:g.157171706_157171724del, NC_000007.14:g.157171707_157171724del, NC_000007.14:g.157171708_157171724del, NC_000007.14:g.157171709_157171724del, NC_000007.14:g.157171710_157171724del, NC_000007.14:g.157171711_157171724del, NC_000007.14:g.157171712_157171724del, NC_000007.14:g.157171713_157171724del, NC_000007.14:g.157171714_157171724del, NC_000007.14:g.157171715_157171724del, NC_000007.14:g.157171716_157171724del, NC_000007.14:g.157171717_157171724del, NC_000007.14:g.157171718_157171724del, NC_000007.14:g.157171719_157171724del, NC_000007.14:g.157171720_157171724del, NC_000007.14:g.157171721_157171724del, NC_000007.14:g.157171722_157171724del, NC_000007.14:g.157171723_157171724del, NC_000007.14:g.157171724del, NC_000007.14:g.157171723_157171724dup, NC_000007.14:g.157171719_157171724dup, NC_000007.14:g.157171701_157171724dup, NC_000007.14:g.157171700_157171724dup, NC_000007.13:g.156964392_156964418del, NC_000007.13:g.156964393_156964418del, NC_000007.13:g.156964394_156964418del, NC_000007.13:g.156964395_156964418del, NC_000007.13:g.156964396_156964418del, NC_000007.13:g.156964397_156964418del, NC_000007.13:g.156964398_156964418del, NC_000007.13:g.156964399_156964418del, NC_000007.13:g.156964400_156964418del, NC_000007.13:g.156964401_156964418del, NC_000007.13:g.156964402_156964418del, NC_000007.13:g.156964403_156964418del, NC_000007.13:g.156964404_156964418del, NC_000007.13:g.156964405_156964418del, NC_000007.13:g.156964406_156964418del, NC_000007.13:g.156964407_156964418del, NC_000007.13:g.156964408_156964418del, NC_000007.13:g.156964409_156964418del, NC_000007.13:g.156964410_156964418del, NC_000007.13:g.156964411_156964418del, NC_000007.13:g.156964412_156964418del, NC_000007.13:g.156964413_156964418del, NC_000007.13:g.156964414_156964418del, NC_000007.13:g.156964415_156964418del, NC_000007.13:g.156964416_156964418del, NC_000007.13:g.156964417_156964418del, NC_000007.13:g.156964418del, NC_000007.13:g.156964417_156964418dup, NC_000007.13:g.156964413_156964418dup, NC_000007.13:g.156964395_156964418dup, NC_000007.13:g.156964394_156964418dup

Select item 14915022918.

rs1491502291 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:157245992 (GRCh38)
7:157038686 (GRCh37)
Canonical SPDI:: NC_000007.14:157245991:CA:
Gene:: UBE3C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00059/7 (ALFA)
HGVS:: NC_000007.14:g.157245992_157245993del, NC_000007.13:g.157038686_157038687del

Select item 14914713169.

rs1491471316 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:157166732 (GRCh38)
7:156959426 (GRCh37)
Canonical SPDI:: NC_000007.14:157166731:CA:
Gene:: UBE3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000007.14:g.157166732_157166733del, NC_000007.13:g.156959426_156959427del

Select item 149146059310.

rs1491460593 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 7:157190637 (GRCh38)
7:156983331 (GRCh37)
Canonical SPDI:: NC_000007.14:157190635:TAT:T
Gene:: UBE3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.157190637_157190638del, NC_000007.13:g.156983331_156983332del

Select item 149144636611.

rs1491446366 has merged into rs58211871 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 7:157161466 (GRCh38)
7:156954160 (GRCh37)
Canonical SPDI:: NC_000007.14:157161454:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:157161454:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:157161454:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:157161454:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:157161454:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:157161454:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:157161454:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: UBE3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0.0222/179 (ALFA)
HGVS:: NC_000007.14:g.157161466_157161469del, NC_000007.14:g.157161467_157161469del, NC_000007.14:g.157161468_157161469del, NC_000007.14:g.157161469del, NC_000007.14:g.157161469dup, NC_000007.14:g.157161468_157161469dup, NC_000007.14:g.157161465_157161469dup, NC_000007.13:g.156954160_156954163del, NC_000007.13:g.156954161_156954163del, NC_000007.13:g.156954162_156954163del, NC_000007.13:g.156954163del, NC_000007.13:g.156954163dup, NC_000007.13:g.156954162_156954163dup, NC_000007.13:g.156954159_156954163dup

Select item 149142562712.

rs1491425627 has merged into rs56270719 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:157246004 (GRCh38)
7:157038698 (GRCh37)
Canonical SPDI:: NC_000007.14:157245992:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:157245992:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:157245992:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:157245992:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:157245992:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:157245992:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:157245992:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:157245992:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:157245992:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:157245992:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:157245992:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:157245992:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:157245992:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:157245992:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:157245992:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:157245992:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:157245992:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:157245992:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:157245992:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:157245992:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:157245992:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:157245992:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: UBE3C (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.157246004_157246014del, NC_000007.14:g.157246005_157246014del, NC_000007.14:g.157246006_157246014del, NC_000007.14:g.157246007_157246014del, NC_000007.14:g.157246008_157246014del, NC_000007.14:g.157246009_157246014del, NC_000007.14:g.157246010_157246014del, NC_000007.14:g.157246011_157246014del, NC_000007.14:g.157246012_157246014del, NC_000007.14:g.157246013_157246014del, NC_000007.14:g.157246014del, NC_000007.14:g.157246014dup, NC_000007.14:g.157246013_157246014dup, NC_000007.14:g.157246012_157246014dup, NC_000007.14:g.157246011_157246014dup, NC_000007.14:g.157246010_157246014dup, NC_000007.14:g.157246009_157246014dup, NC_000007.14:g.157246008_157246014dup, NC_000007.14:g.157246007_157246014dup, NC_000007.14:g.157246006_157246014dup, NC_000007.14:g.157246005_157246014dup, NC_000007.14:g.157246003_157246014dup, NC_000007.13:g.157038698_157038708del, NC_000007.13:g.157038699_157038708del, NC_000007.13:g.157038700_157038708del, NC_000007.13:g.157038701_157038708del, NC_000007.13:g.157038702_157038708del, NC_000007.13:g.157038703_157038708del, NC_000007.13:g.157038704_157038708del, NC_000007.13:g.157038705_157038708del, NC_000007.13:g.157038706_157038708del, NC_000007.13:g.157038707_157038708del, NC_000007.13:g.157038708del, NC_000007.13:g.157038708dup, NC_000007.13:g.157038707_157038708dup, NC_000007.13:g.157038706_157038708dup, NC_000007.13:g.157038705_157038708dup, NC_000007.13:g.157038704_157038708dup, NC_000007.13:g.157038703_157038708dup, NC_000007.13:g.157038702_157038708dup, NC_000007.13:g.157038701_157038708dup, NC_000007.13:g.157038700_157038708dup, NC_000007.13:g.157038699_157038708dup, NC_000007.13:g.157038697_157038708dup

Select item 149136182613.

rs1491361826 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC [Show Flanks]
Chromosome:: 7:157224776 (GRCh38)
7:157017471 (GRCh37)
Canonical SPDI:: NC_000007.14:157224776:C:CGC
Gene:: UBE3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CGC=0./0 (ALFA)
HGVS:: NC_000007.14:g.157224777_157224778insGC, NC_000007.13:g.157017471_157017472insGC

Select item 149135620514.

rs1491356205 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 7:157247703 (GRCh38)
7:157040398 (GRCh37)
Canonical SPDI:: NC_000007.14:157247703::T
Gene:: UBE3C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000007.14:g.157247703_157247704insT, NC_000007.13:g.157040397_157040398insT

Select item 149134205115.

rs1491342051 has merged into rs1351022385 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAC>-,AC,ACACAC,ACACACAC,ACACACACAC [Show Flanks]
Chromosome:: 7:157264085 (GRCh38)
7:157056779 (GRCh37)
Canonical SPDI:: NC_000007.14:157264074:ACACACACACACAC:ACACACACAC,NC_000007.14:157264074:ACACACACACACAC:ACACACACACAC,NC_000007.14:157264074:ACACACACACACAC:ACACACACACACACAC,NC_000007.14:157264074:ACACACACACACAC:ACACACACACACACACAC,NC_000007.14:157264074:ACACACACACACAC:ACACACACACACACACACAC
Gene:: UBE3C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACAC=0.00055/9 (ALFA)
-=0.005/3 (NorthernSweden)
HGVS:: NC_000007.14:g.157264075AC[5], NC_000007.14:g.157264075AC[6], NC_000007.14:g.157264075AC[8], NC_000007.14:g.157264075AC[9], NC_000007.14:g.157264075AC[10], NC_000007.13:g.157056769AC[5], NC_000007.13:g.157056769AC[6], NC_000007.13:g.157056769AC[8], NC_000007.13:g.157056769AC[9], NC_000007.13:g.157056769AC[10]

Select item 149133684616.

rs1491336846 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 7:157187393 (GRCh38)
7:156980087 (GRCh37)
Canonical SPDI:: NC_000007.14:157187391:TCT:T
Gene:: UBE3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
-=0.00005/7 (GnomAD)
HGVS:: NC_000007.14:g.157187393_157187394del, NC_000007.13:g.156980087_156980088del

Select item 149130718017.

rs1491307180 has merged into rs35054342 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:157166745 (GRCh38)
7:156959439 (GRCh37)
Canonical SPDI:: NC_000007.14:157166732:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:157166732:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:157166732:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:157166732:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:157166732:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:157166732:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:157166732:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:157166732:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:157166732:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:157166732:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: UBE3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.157166745_157166749del, NC_000007.14:g.157166746_157166749del, NC_000007.14:g.157166747_157166749del, NC_000007.14:g.157166748_157166749del, NC_000007.14:g.157166749del, NC_000007.14:g.157166749dup, NC_000007.14:g.157166748_157166749dup, NC_000007.14:g.157166747_157166749dup, NC_000007.14:g.157166746_157166749dup, NC_000007.14:g.157166742_157166749dup, NC_000007.13:g.156959439_156959443del, NC_000007.13:g.156959440_156959443del, NC_000007.13:g.156959441_156959443del, NC_000007.13:g.156959442_156959443del, NC_000007.13:g.156959443del, NC_000007.13:g.156959443dup, NC_000007.13:g.156959442_156959443dup, NC_000007.13:g.156959441_156959443dup, NC_000007.13:g.156959440_156959443dup, NC_000007.13:g.156959436_156959443dup

Select item 149126387418.

rs1491263874 has merged into rs34300175 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACAC>-,AC,ACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC [Show Flanks]
Chromosome:: 7:157224788 (GRCh38)
7:157017482 (GRCh37)
Canonical SPDI:: NC_000007.14:157224775:ACACACACACACACACAC:ACACACACACAC,NC_000007.14:157224775:ACACACACACACACACAC:ACACACACACACAC,NC_000007.14:157224775:ACACACACACACACACAC:ACACACACACACACAC,NC_000007.14:157224775:ACACACACACACACACAC:ACACACACACACACACACAC,NC_000007.14:157224775:ACACACACACACACACAC:ACACACACACACACACACACAC,NC_000007.14:157224775:ACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000007.14:157224775:ACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000007.14:157224775:ACACACACACACACACAC:ACACACACACACACACACACACACACAC
Gene:: UBE3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACAC=0./0 (ALFA)
HGVS:: NC_000007.14:g.157224776AC[6], NC_000007.14:g.157224776AC[7], NC_000007.14:g.157224776AC[8], NC_000007.14:g.157224776AC[10], NC_000007.14:g.157224776AC[11], NC_000007.14:g.157224776AC[12], NC_000007.14:g.157224776AC[13], NC_000007.14:g.157224776AC[14], NC_000007.13:g.157017470AC[6], NC_000007.13:g.157017470AC[7], NC_000007.13:g.157017470AC[8], NC_000007.13:g.157017470AC[10], NC_000007.13:g.157017470AC[11], NC_000007.13:g.157017470AC[12], NC_000007.13:g.157017470AC[13], NC_000007.13:g.157017470AC[14]

Select item 149125580219.

rs1491255802 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 7:157190968 (GRCh38)
7:156983662 (GRCh37)
Canonical SPDI:: NC_000007.14:157190967:AG:
Gene:: UBE3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000546/1 (Korea1K)
HGVS:: NC_000007.14:g.157190968_157190969del, NC_000007.13:g.156983662_156983663del

Select item 149125049420.

rs1491250494 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTA [Show Flanks]
Chromosome:: 7:157156324 (GRCh38)
7:156949019 (GRCh37)
Canonical SPDI:: NC_000007.14:157156324::TTA
Gene:: UBE3C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTA=0.0002/1 (ALFA)
HGVS:: NC_000007.14:g.157156324_157156325insTTA, NC_000007.13:g.156949018_156949019insTTA

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