SNP Links for Gene (Select 9156) - SNP

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Select item 14914433111.

rs1491443311 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:241865654 (GRCh38)
1:242028956 (GRCh37)
Canonical SPDI:: NC_000001.11:241865653:CA:
Gene:: EXO1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.241865654_241865655del, NC_000001.10:g.242028956_242028957del, NG_029100.2:g.22464_22465del

Select item 14914105102.

rs1491410510 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 1:241857359 (GRCh38)
1:242020661 (GRCh37)
Canonical SPDI:: NC_000001.11:241857358:GGGGG:GGGG,NC_000001.11:241857358:GGGGG:GGGGGG
Gene:: EXO1 (Varview)
Functional Consequence:: frameshift_variant,stop_gained,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.241857363del, NC_000001.11:g.241857363dup, NC_000001.10:g.242020665del, NC_000001.10:g.242020665dup, NG_029100.2:g.14173del, NG_029100.2:g.14173dup, NM_130398.4:c.424del, NM_130398.4:c.424dup, NM_130398.3:c.424del, NM_130398.3:c.424dup, NM_006027.4:c.424del, NM_006027.4:c.424dup, NM_003686.4:c.424del, NM_003686.4:c.424dup, NM_001319224.2:c.424del, NM_001319224.2:c.424dup, NM_001319224.1:c.424del, NM_001319224.1:c.424dup, XM_006711840.3:c.424del, XM_006711840.3:c.424dup, XM_006711840.2:c.424del, XM_006711840.2:c.424dup, XM_006711840.1:c.424del, XM_006711840.1:c.424dup, XM_011544323.3:c.424del, XM_011544323.3:c.424dup, XM_011544323.2:c.424del, XM_011544323.2:c.424dup, XM_011544323.1:c.424del, XM_011544323.1:c.424dup, XM_011544321.3:c.424del, XM_011544321.3:c.424dup, XM_011544321.2:c.424del, XM_011544321.2:c.424dup, XM_011544321.1:c.424del, XM_011544321.1:c.424dup, XM_011544324.3:c.304del, XM_011544324.3:c.304dup, XM_011544324.2:c.304del, XM_011544324.2:c.304dup, XM_011544324.1:c.304del, XM_011544324.1:c.304dup, XM_017002793.3:c.304del, XM_017002793.3:c.304dup, XM_017002793.2:c.304del, XM_017002793.2:c.304dup, XM_017002793.1:c.304del, XM_017002793.1:c.304dup, XM_011544322.2:c.424del, XM_011544322.2:c.424dup, XM_011544322.1:c.424del, XM_011544322.1:c.424dup, XM_047434104.1:c.424del, XM_047434104.1:c.424dup, XM_047434112.1:c.424del, XM_047434112.1:c.424dup, XM_047434106.1:c.424del, XM_047434106.1:c.424dup, XM_047434107.1:c.424del, XM_047434107.1:c.424dup, XM_047434108.1:c.424del, XM_047434108.1:c.424dup, XM_047434139.1:c.304del, XM_047434139.1:c.304dup, XM_047434121.1:c.304del, XM_047434121.1:c.304dup, XM_047434150.1:c.304del, XM_047434150.1:c.304dup, XM_047434129.1:c.304del, XM_047434129.1:c.304dup, XM_047434155.1:c.304del, XM_047434155.1:c.304dup, XM_047434130.1:c.304del, XM_047434130.1:c.304dup, NP_569082.2:p.Gly141_Val142insTer, NP_569082.2:p.Val142fs, NP_006018.4:p.Gly141_Val142insTer, NP_006018.4:p.Val142fs, NP_003677.4:p.Gly141_Val142insTer, NP_003677.4:p.Val142fs, NP_001306153.1:p.Gly141_Val142insTer, NP_001306153.1:p.Val142fs, XP_006711903.1:p.Gly141_Val142insTer, XP_006711903.1:p.Val142fs, XP_011542625.1:p.Gly141_Val142insTer, XP_011542625.1:p.Val142fs, XP_011542623.1:p.Gly141_Val142insTer, XP_011542623.1:p.Val142fs, XP_011542626.1:p.Gly101_Val102insTer, XP_011542626.1:p.Val102fs, XP_016858282.1:p.Gly101_Val102insTer, XP_016858282.1:p.Val102fs, XP_011542624.1:p.Gly141_Val142insTer, XP_011542624.1:p.Val142fs, XP_047290060.1:p.Gly141_Val142insTer, XP_047290060.1:p.Val142fs, XP_047290068.1:p.Gly141_Val142insTer, XP_047290068.1:p.Val142fs, XP_047290062.1:p.Gly141_Val142insTer, XP_047290062.1:p.Val142fs, XP_047290063.1:p.Gly141_Val142insTer, XP_047290063.1:p.Val142fs, XP_047290064.1:p.Gly141_Val142insTer, XP_047290064.1:p.Val142fs, XP_047290095.1:p.Gly101_Val102insTer, XP_047290095.1:p.Val102fs, XP_047290077.1:p.Gly101_Val102insTer, XP_047290077.1:p.Val102fs, XP_047290106.1:p.Gly101_Val102insTer, XP_047290106.1:p.Val102fs, XP_047290085.1:p.Gly101_Val102insTer, XP_047290085.1:p.Val102fs, XP_047290111.1:p.Gly101_Val102insTer, XP_047290111.1:p.Val102fs, XP_047290086.1:p.Gly101_Val102insTer, XP_047290086.1:p.Val102fs

Select item 14913709273.

rs1491370927 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 1:241883922 (GRCh38)
1:242047224 (GRCh37)
Canonical SPDI:: NC_000001.11:241883921:TT:
Gene:: EXO1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.241883922_241883923del, NC_000001.10:g.242047224_242047225del, NG_029100.2:g.40732_40733del

Select item 14913317574.

rs1491331757 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATTT [Show Flanks]
Chromosome:: 1:241865195 (GRCh38)
1:242028498 (GRCh37)
Canonical SPDI:: NC_000001.11:241865195:T:TATTT
Gene:: EXO1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATTT=0./0 (ALFA)
TATT=0.000199/22 (GnomAD)
HGVS:: NC_000001.11:g.241865196_241865197insATTT, NC_000001.10:g.242028498_242028499insATTT, NG_029100.2:g.22006_22007insATTT

Select item 14912142515.

rs1491214251 has merged into rs68010446 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG [Show Flanks]
Chromosome:: 1:241865061 (GRCh38)
1:242028363 (GRCh37)
Canonical SPDI:: NC_000001.11:241865052:GGGGGGGGGG:GGGGGGGG,NC_000001.11:241865052:GGGGGGGGGG:GGGGGGGGG,NC_000001.11:241865052:GGGGGGGGGG:GGGGGGGGGGG,NC_000001.11:241865052:GGGGGGGGGG:GGGGGGGGGGGG
Gene:: EXO1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
-=0.00028/5 (TOMMO)
HGVS:: NC_000001.11:g.241865061_241865062del, NC_000001.11:g.241865062del, NC_000001.11:g.241865062dup, NC_000001.11:g.241865061_241865062dup, NC_000001.10:g.242028363_242028364del, NC_000001.10:g.242028364del, NC_000001.10:g.242028364dup, NC_000001.10:g.242028363_242028364dup, NG_029100.2:g.21871_21872del, NG_029100.2:g.21872del, NG_029100.2:g.21872dup, NG_029100.2:g.21871_21872dup

Select item 14911712326.

rs1491171232 [Homo sapiens]

Variant type:: INS
Alleles:: ->AA [Show Flanks]
Chromosome:: 1:241883922 (GRCh38)
1:242047225 (GRCh37)
Canonical SPDI:: NC_000001.11:241883922::AA
Gene:: EXO1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.241883922_241883923insAA, NC_000001.10:g.242047224_242047225insAA, NG_029100.2:g.40732_40733insAA

Select item 14911462657.

rs1491146265 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:241857358 (GRCh38)
1:242020660 (GRCh37)
Canonical SPDI:: NC_000001.11:241857357:AG:
Gene:: EXO1 (Varview)
Functional Consequence:: frameshift_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00027/5 (ALFA)
-=0.00002/5 (GnomAD_exomes)
-=0.00003/8 (TOPMED)
-=0.000057/8 (GnomAD)
-=0.000071/1 (TOMMO)
-=0.000546/1 (Korea1K)
-=0.001116/5 (Estonian)
HGVS:: NC_000001.11:g.241857358_241857359del, NC_000001.10:g.242020660_242020661del, NG_029100.2:g.14168_14169del, NM_130398.4:c.419_420del, NM_130398.3:c.419_420del, NM_006027.4:c.419_420del, NM_003686.4:c.419_420del, NM_001319224.2:c.419_420del, NM_001319224.1:c.419_420del, XM_006711840.3:c.419_420del, XM_006711840.2:c.419_420del, XM_006711840.1:c.419_420del, XM_011544323.3:c.419_420del, XM_011544323.2:c.419_420del, XM_011544323.1:c.419_420del, XM_011544321.3:c.419_420del, XM_011544321.2:c.419_420del, XM_011544321.1:c.419_420del, XM_011544324.3:c.299_300del, XM_011544324.2:c.299_300del, XM_011544324.1:c.299_300del, XM_017002793.3:c.299_300del, XM_017002793.2:c.299_300del, XM_017002793.1:c.299_300del, XM_011544322.2:c.419_420del, XM_011544322.1:c.419_420del, XM_047434104.1:c.419_420del, XM_047434112.1:c.419_420del, XM_047434106.1:c.419_420del, XM_047434107.1:c.419_420del, XM_047434108.1:c.419_420del, XM_047434139.1:c.299_300del, XM_047434121.1:c.299_300del, XM_047434150.1:c.299_300del, XM_047434129.1:c.299_300del, XM_047434155.1:c.299_300del, XM_047434130.1:c.299_300del, NP_569082.2:p.Gln140fs, NP_006018.4:p.Gln140fs, NP_003677.4:p.Gln140fs, NP_001306153.1:p.Gln140fs, XP_006711903.1:p.Gln140fs, XP_011542625.1:p.Gln140fs, XP_011542623.1:p.Gln140fs, XP_011542626.1:p.Gln100fs, XP_016858282.1:p.Gln100fs, XP_011542624.1:p.Gln140fs, XP_047290060.1:p.Gln140fs, XP_047290068.1:p.Gln140fs, XP_047290062.1:p.Gln140fs, XP_047290063.1:p.Gln140fs, XP_047290064.1:p.Gln140fs, XP_047290095.1:p.Gln100fs, XP_047290077.1:p.Gln100fs, XP_047290106.1:p.Gln100fs, XP_047290085.1:p.Gln100fs, XP_047290111.1:p.Gln100fs, XP_047290086.1:p.Gln100fs

Select item 14910376168.

rs1491037616 has merged into rs10641736 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:241850844 (GRCh38)
1:242014146 (GRCh37)
Canonical SPDI:: NC_000001.11:241850836:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000001.11:241850836:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:241850836:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:241850836:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:241850836:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:241850836:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:241850836:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:241850836:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:241850836:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:241850836:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:241850836:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:241850836:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:241850836:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:241850836:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241850836:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241850836:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241850836:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241850836:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241850836:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241850836:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241850836:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241850836:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241850836:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241850836:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241850836:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241850836:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241850836:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241850836:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241850836:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: EXO1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.241850844_241850859del, NC_000001.11:g.241850846_241850859del, NC_000001.11:g.241850847_241850859del, NC_000001.11:g.241850848_241850859del, NC_000001.11:g.241850849_241850859del, NC_000001.11:g.241850850_241850859del, NC_000001.11:g.241850851_241850859del, NC_000001.11:g.241850852_241850859del, NC_000001.11:g.241850853_241850859del, NC_000001.11:g.241850854_241850859del, NC_000001.11:g.241850855_241850859del, NC_000001.11:g.241850856_241850859del, NC_000001.11:g.241850857_241850859del, NC_000001.11:g.241850858_241850859del, NC_000001.11:g.241850859del, NC_000001.11:g.241850859dup, NC_000001.11:g.241850858_241850859dup, NC_000001.11:g.241850857_241850859dup, NC_000001.11:g.241850856_241850859dup, NC_000001.11:g.241850855_241850859dup, NC_000001.11:g.241850854_241850859dup, NC_000001.11:g.241850853_241850859dup, NC_000001.11:g.241850852_241850859dup, NC_000001.11:g.241850851_241850859dup, NC_000001.11:g.241850850_241850859dup, NC_000001.11:g.241850849_241850859dup, NC_000001.11:g.241850848_241850859dup, NC_000001.11:g.241850842_241850859dup, NC_000001.11:g.241850859_241850860insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.242014146_242014161del, NC_000001.10:g.242014148_242014161del, NC_000001.10:g.242014149_242014161del, NC_000001.10:g.242014150_242014161del, NC_000001.10:g.242014151_242014161del, NC_000001.10:g.242014152_242014161del, NC_000001.10:g.242014153_242014161del, NC_000001.10:g.242014154_242014161del, NC_000001.10:g.242014155_242014161del, NC_000001.10:g.242014156_242014161del, NC_000001.10:g.242014157_242014161del, NC_000001.10:g.242014158_242014161del, NC_000001.10:g.242014159_242014161del, NC_000001.10:g.242014160_242014161del, NC_000001.10:g.242014161del, NC_000001.10:g.242014161dup, NC_000001.10:g.242014160_242014161dup, NC_000001.10:g.242014159_242014161dup, NC_000001.10:g.242014158_242014161dup, NC_000001.10:g.242014157_242014161dup, NC_000001.10:g.242014156_242014161dup, NC_000001.10:g.242014155_242014161dup, NC_000001.10:g.242014154_242014161dup, NC_000001.10:g.242014153_242014161dup, NC_000001.10:g.242014152_242014161dup, NC_000001.10:g.242014151_242014161dup, NC_000001.10:g.242014150_242014161dup, NC_000001.10:g.242014144_242014161dup, NC_000001.10:g.242014161_242014162insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029100.2:g.7654_7669del, NG_029100.2:g.7656_7669del, NG_029100.2:g.7657_7669del, NG_029100.2:g.7658_7669del, NG_029100.2:g.7659_7669del, NG_029100.2:g.7660_7669del, NG_029100.2:g.7661_7669del, NG_029100.2:g.7662_7669del, NG_029100.2:g.7663_7669del, NG_029100.2:g.7664_7669del, NG_029100.2:g.7665_7669del, NG_029100.2:g.7666_7669del, NG_029100.2:g.7667_7669del, NG_029100.2:g.7668_7669del, NG_029100.2:g.7669del, NG_029100.2:g.7669dup, NG_029100.2:g.7668_7669dup, NG_029100.2:g.7667_7669dup, NG_029100.2:g.7666_7669dup, NG_029100.2:g.7665_7669dup, NG_029100.2:g.7664_7669dup, NG_029100.2:g.7663_7669dup, NG_029100.2:g.7662_7669dup, NG_029100.2:g.7661_7669dup, NG_029100.2:g.7660_7669dup, NG_029100.2:g.7659_7669dup, NG_029100.2:g.7658_7669dup, NG_029100.2:g.7652_7669dup, NG_029100.2:g.7669_7670insTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14909260969.

rs1490926096 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:241875589 (GRCh38)
1:242038891 (GRCh37)
Canonical SPDI:: NC_000001.11:241875588:A:G
Gene:: EXO1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.241875589A>G, NC_000001.10:g.242038891A>G, NG_029100.2:g.32399A>G

Select item 149091395210.

rs1490913952 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:241880109 (GRCh38)
1:242043411 (GRCh37)
Canonical SPDI:: NC_000001.11:241880108:C:T
Gene:: EXO1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.241880109C>T, NC_000001.10:g.242043411C>T, NG_029100.2:g.36919C>T

Select item 149077272911.

rs1490772729 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:241872434 (GRCh38)
1:242035736 (GRCh37)
Canonical SPDI:: NC_000001.11:241872433:C:T
Gene:: EXO1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.241872434C>T, NC_000001.10:g.242035736C>T, NG_029100.2:g.29244C>T

Select item 149072963212.

rs1490729632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:241857764 (GRCh38)
1:242021066 (GRCh37)
Canonical SPDI:: NC_000001.11:241857763:G:A
Gene:: EXO1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.241857764G>A, NC_000001.10:g.242021066G>A, NG_029100.2:g.14574G>A

Select item 149061595813.

rs1490615958 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTCAGT [Show Flanks]
Chromosome:: 1:241856605 (GRCh38)
1:242019908 (GRCh37)
Canonical SPDI:: NC_000001.11:241856605:GTGTCAGT:GTGTCAGTGTCAGT
Gene:: EXO1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GTGTCAGTGTCAGT=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.241856608_241856613dup, NC_000001.10:g.242019910_242019915dup, NG_029100.2:g.13418_13423dup

Select item 149054024914.

rs1490540249 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:241888022 (GRCh38)
1:242051324 (GRCh37)
Canonical SPDI:: NC_000001.11:241888021:A:G
Gene:: EXO1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.241888022A>G, NC_000001.10:g.242051324A>G, NG_029100.2:g.44832A>G

Select item 149051489715.

rs1490514897 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:241886975 (GRCh38)
1:242050277 (GRCh37)
Canonical SPDI:: NC_000001.11:241886974:G:A
Gene:: EXO1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.241886975G>A, NC_000001.10:g.242050277G>A, NG_029100.2:g.43785G>A

Select item 149050280316.

rs1490502803 [Homo sapiens]

Variant type:: DEL
Alleles:: GACATGAAC>- [Show Flanks]
Chromosome:: 1:241872675 (GRCh38)
1:242035977 (GRCh37)
Canonical SPDI:: NC_000001.11:241872674:GACATGAAC:
Gene:: EXO1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.241872675_241872683del, NC_000001.10:g.242035977_242035985del, NG_029100.2:g.29485_29493del

Select item 149043602217.

rs1490436022 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:241874799 (GRCh38)
1:242038101 (GRCh37)
Canonical SPDI:: NC_000001.11:241874798:T:G
Gene:: EXO1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.241874799T>G, NC_000001.10:g.242038101T>G, NG_029100.2:g.31609T>G

Select item 149042424218.

rs1490424242 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:241880617 (GRCh38)
1:242043919 (GRCh37)
Canonical SPDI:: NC_000001.11:241880616:G:A
Gene:: EXO1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.241880617G>A, NC_000001.10:g.242043919G>A, NG_029100.2:g.37427G>A

Select item 149040663919.

rs1490406639 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:241879684 (GRCh38)
1:242042986 (GRCh37)
Canonical SPDI:: NC_000001.11:241879683:A:G
Gene:: EXO1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.241879684A>G, NC_000001.10:g.242042986A>G, NG_029100.2:g.36494A>G

Select item 149038552920.

rs1490385529 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:241866395 (GRCh38)
1:242029697 (GRCh37)
Canonical SPDI:: NC_000001.11:241866394:T:A,NC_000001.11:241866394:T:C
Gene:: EXO1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.241866395T>A, NC_000001.11:g.241866395T>C, NC_000001.10:g.242029697T>A, NC_000001.10:g.242029697T>C, NG_029100.2:g.23205T>A, NG_029100.2:g.23205T>C

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