SNP Links for Gene (Select 23126) - SNP

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Select item 14915232341.

rs1491523234 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:151446779 (GRCh38)
1:151419255 (GRCh37)
Canonical SPDI:: NC_000001.11:151446778:AG:
Gene:: POGZ (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.151446779_151446780del, NC_000001.10:g.151419255_151419256del, NG_046601.1:g.17686_17687del

Select item 14915062762.

rs1491506276 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:151416211 (GRCh38)
1:151388688 (GRCh37)
Canonical SPDI:: NC_000001.11:151416211::C
Gene:: POGZ (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.151416211_151416212insC, NC_000001.10:g.151388687_151388688insC, NG_046601.1:g.48254_48255insG

Select item 14914029293.

rs1491402929 has merged into rs1277790279 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 1:151442725 (GRCh38)
1:151415201 (GRCh37)
Canonical SPDI:: NC_000001.11:151442710:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:151442710:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:151442710:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:151442710:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:151442710:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:151442710:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151442710:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: POGZ (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.151442725_151442729del, NC_000001.11:g.151442726_151442729del, NC_000001.11:g.151442728_151442729del, NC_000001.11:g.151442729del, NC_000001.11:g.151442729dup, NC_000001.11:g.151442728_151442729dup, NC_000001.11:g.151442727_151442729dup, NC_000001.10:g.151415201_151415205del, NC_000001.10:g.151415202_151415205del, NC_000001.10:g.151415204_151415205del, NC_000001.10:g.151415205del, NC_000001.10:g.151415205dup, NC_000001.10:g.151415204_151415205dup, NC_000001.10:g.151415203_151415205dup, NG_046601.1:g.21751_21755del, NG_046601.1:g.21752_21755del, NG_046601.1:g.21754_21755del, NG_046601.1:g.21755del, NG_046601.1:g.21755dup, NG_046601.1:g.21754_21755dup, NG_046601.1:g.21753_21755dup

Select item 14913885814.

rs1491388581 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 1:151417688 (GRCh38)
1:151390164 (GRCh37)
Canonical SPDI:: NC_000001.11:151417687:CC:
Gene:: POGZ (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.151417688_151417689del, NC_000001.10:g.151390164_151390165del, NG_046601.1:g.46777_46778del

Select item 14913855245.

rs1491385524 has merged into rs768038263 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:151455906 (GRCh38)
1:151428382 (GRCh37)
Canonical SPDI:: NC_000001.11:151455894:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:151455894:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:151455894:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:151455894:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:151455894:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:151455894:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:151455894:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:151455894:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:151455894:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:151455894:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:151455894:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151455894:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151455894:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151455894:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151455894:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151455894:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151455894:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151455894:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151455894:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151455894:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151455894:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151455894:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: POGZ (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
TTT=0.16373/631 (ALSPAC)
TTT=0.16397/608 (TWINSUK)
HGVS:: NC_000001.11:g.151455906_151455918del, NC_000001.11:g.151455907_151455918del, NC_000001.11:g.151455908_151455918del, NC_000001.11:g.151455909_151455918del, NC_000001.11:g.151455910_151455918del, NC_000001.11:g.151455911_151455918del, NC_000001.11:g.151455912_151455918del, NC_000001.11:g.151455913_151455918del, NC_000001.11:g.151455914_151455918del, NC_000001.11:g.151455915_151455918del, NC_000001.11:g.151455916_151455918del, NC_000001.11:g.151455917_151455918del, NC_000001.11:g.151455918del, NC_000001.11:g.151455918dup, NC_000001.11:g.151455917_151455918dup, NC_000001.11:g.151455916_151455918dup, NC_000001.11:g.151455915_151455918dup, NC_000001.11:g.151455914_151455918dup, NC_000001.11:g.151455913_151455918dup, NC_000001.11:g.151455912_151455918dup, NC_000001.11:g.151455911_151455918dup, NC_000001.11:g.151455910_151455918dup, NC_000001.10:g.151428382_151428394del, NC_000001.10:g.151428383_151428394del, NC_000001.10:g.151428384_151428394del, NC_000001.10:g.151428385_151428394del, NC_000001.10:g.151428386_151428394del, NC_000001.10:g.151428387_151428394del, NC_000001.10:g.151428388_151428394del, NC_000001.10:g.151428389_151428394del, NC_000001.10:g.151428390_151428394del, NC_000001.10:g.151428391_151428394del, NC_000001.10:g.151428392_151428394del, NC_000001.10:g.151428393_151428394del, NC_000001.10:g.151428394del, NC_000001.10:g.151428394dup, NC_000001.10:g.151428393_151428394dup, NC_000001.10:g.151428392_151428394dup, NC_000001.10:g.151428391_151428394dup, NC_000001.10:g.151428390_151428394dup, NC_000001.10:g.151428389_151428394dup, NC_000001.10:g.151428388_151428394dup, NC_000001.10:g.151428387_151428394dup, NC_000001.10:g.151428386_151428394dup, NG_046601.1:g.8559_8571del, NG_046601.1:g.8560_8571del, NG_046601.1:g.8561_8571del, NG_046601.1:g.8562_8571del, NG_046601.1:g.8563_8571del, NG_046601.1:g.8564_8571del, NG_046601.1:g.8565_8571del, NG_046601.1:g.8566_8571del, NG_046601.1:g.8567_8571del, NG_046601.1:g.8568_8571del, NG_046601.1:g.8569_8571del, NG_046601.1:g.8570_8571del, NG_046601.1:g.8571del, NG_046601.1:g.8571dup, NG_046601.1:g.8570_8571dup, NG_046601.1:g.8569_8571dup, NG_046601.1:g.8568_8571dup, NG_046601.1:g.8567_8571dup, NG_046601.1:g.8566_8571dup, NG_046601.1:g.8565_8571dup, NG_046601.1:g.8564_8571dup, NG_046601.1:g.8563_8571dup

Select item 14912648576.

rs1491264857 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:151433606 (GRCh38)
1:151406082 (GRCh37)
Canonical SPDI:: NC_000001.11:151433605:CA:
Gene:: POGZ (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.02175/258 (ALFA)
-=0.00097/27 (TOMMO)
-=0.00518/78 (GnomAD)
HGVS:: NC_000001.11:g.151433606_151433607del, NC_000001.10:g.151406082_151406083del, NG_046601.1:g.30859_30860del

Select item 14911668067.

rs1491166806 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCAC,CCACAC,CCACACAC,CCACACACAC [Show Flanks]
Chromosome:: 1:151417688 (GRCh38)
1:151390165 (GRCh37)
Canonical SPDI:: NC_000001.11:151417688:C:CCCAC,NC_000001.11:151417688:C:CCCACAC,NC_000001.11:151417688:C:CCCACACAC,NC_000001.11:151417688:C:CCCACACACAC
Gene:: POGZ (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCACAC=0./0 (ALFA)
HGVS:: NC_000001.11:g.151417689_151417690insCCAC, NC_000001.11:g.151417689_151417690insCCACAC, NC_000001.11:g.151417689_151417690insCCACACAC, NC_000001.11:g.151417689_151417690insCCACACACAC, NC_000001.10:g.151390165_151390166insCCAC, NC_000001.10:g.151390165_151390166insCCACAC, NC_000001.10:g.151390165_151390166insCCACACAC, NC_000001.10:g.151390165_151390166insCCACACACAC, NG_046601.1:g.46777_46778insTGGG, NG_046601.1:g.46777GT[2]GGG[1], NG_046601.1:g.46777GT[3]GGG[1], NG_046601.1:g.46777GT[4]GGG[1]

Select item 14911437698.

rs1491143769 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 1:151446780 (GRCh38)
1:151419256 (GRCh37)
Canonical SPDI:: NC_000001.11:151446779:GG:G,NC_000001.11:151446779:GG:GGG
Gene:: POGZ (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000031/4 (GnomAD)
-=0.000177/5 (TOMMO)
HGVS:: NC_000001.11:g.151446781del, NC_000001.11:g.151446781dup, NC_000001.10:g.151419257del, NC_000001.10:g.151419257dup, NG_046601.1:g.17686del, NG_046601.1:g.17686dup

Select item 14911339289.

rs1491133928 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 1:151455895 (GRCh38)
1:151428372 (GRCh37)
Canonical SPDI:: NC_000001.11:151455895:TT:TTCTT
Gene:: POGZ (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.151455897_151455898insCTT, NC_000001.10:g.151428373_151428374insCTT, NG_046601.1:g.8570_8571insGAA

Select item 149109872910.

rs1491098729 has merged into rs1212371839 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:151416218 (GRCh38)
1:151388694 (GRCh37)
Canonical SPDI:: NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151416210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: POGZ (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.151416218_151416235del, NC_000001.11:g.151416222_151416235del, NC_000001.11:g.151416223_151416235del, NC_000001.11:g.151416224_151416235del, NC_000001.11:g.151416225_151416235del, NC_000001.11:g.151416226_151416235del, NC_000001.11:g.151416227_151416235del, NC_000001.11:g.151416228_151416235del, NC_000001.11:g.151416229_151416235del, NC_000001.11:g.151416230_151416235del, NC_000001.11:g.151416231_151416235del, NC_000001.11:g.151416232_151416235del, NC_000001.11:g.151416233_151416235del, NC_000001.11:g.151416234_151416235del, NC_000001.11:g.151416235del, NC_000001.11:g.151416235dup, NC_000001.11:g.151416234_151416235dup, NC_000001.11:g.151416233_151416235dup, NC_000001.11:g.151416232_151416235dup, NC_000001.11:g.151416231_151416235dup, NC_000001.11:g.151416230_151416235dup, NC_000001.11:g.151416229_151416235dup, NC_000001.11:g.151416228_151416235dup, NC_000001.11:g.151416227_151416235dup, NC_000001.11:g.151416226_151416235dup, NC_000001.11:g.151416225_151416235dup, NC_000001.11:g.151416224_151416235dup, NC_000001.11:g.151416223_151416235dup, NC_000001.11:g.151416222_151416235dup, NC_000001.11:g.151416221_151416235dup, NC_000001.11:g.151416220_151416235dup, NC_000001.11:g.151416219_151416235dup, NC_000001.11:g.151416218_151416235dup, NC_000001.11:g.151416216_151416235dup, NC_000001.11:g.151416214_151416235dup, NC_000001.11:g.151416212_151416235dup, NC_000001.11:g.151416211_151416235dup, NC_000001.11:g.151416235_151416236insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.151416235_151416236insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.151416235_151416236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.151416235_151416236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.151416235_151416236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.151416235_151416236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.151416235_151416236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.151416235_151416236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.151416211_151416235A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.151416211_151416235A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.151416211_151416235A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.151416211_151416235A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.151416211_151416235A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.151388694_151388711del, NC_000001.10:g.151388698_151388711del, NC_000001.10:g.151388699_151388711del, NC_000001.10:g.151388700_151388711del, NC_000001.10:g.151388701_151388711del, NC_000001.10:g.151388702_151388711del, NC_000001.10:g.151388703_151388711del, NC_000001.10:g.151388704_151388711del, NC_000001.10:g.151388705_151388711del, NC_000001.10:g.151388706_151388711del, NC_000001.10:g.151388707_151388711del, NC_000001.10:g.151388708_151388711del, NC_000001.10:g.151388709_151388711del, NC_000001.10:g.151388710_151388711del, NC_000001.10:g.151388711del, NC_000001.10:g.151388711dup, NC_000001.10:g.151388710_151388711dup, NC_000001.10:g.151388709_151388711dup, NC_000001.10:g.151388708_151388711dup, NC_000001.10:g.151388707_151388711dup, NC_000001.10:g.151388706_151388711dup, NC_000001.10:g.151388705_151388711dup, NC_000001.10:g.151388704_151388711dup, NC_000001.10:g.151388703_151388711dup, NC_000001.10:g.151388702_151388711dup, NC_000001.10:g.151388701_151388711dup, NC_000001.10:g.151388700_151388711dup, NC_000001.10:g.151388699_151388711dup, NC_000001.10:g.151388698_151388711dup, NC_000001.10:g.151388697_151388711dup, NC_000001.10:g.151388696_151388711dup, NC_000001.10:g.151388695_151388711dup, NC_000001.10:g.151388694_151388711dup, NC_000001.10:g.151388692_151388711dup, NC_000001.10:g.151388690_151388711dup, NC_000001.10:g.151388688_151388711dup, NC_000001.10:g.151388687_151388711dup, NC_000001.10:g.151388711_151388712insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.151388711_151388712insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.151388711_151388712insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.151388711_151388712insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.151388711_151388712insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.151388711_151388712insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.151388711_151388712insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.151388711_151388712insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.151388687_151388711A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.151388687_151388711A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.151388687_151388711A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.151388687_151388711A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.151388687_151388711A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_046601.1:g.48238_48255del, NG_046601.1:g.48242_48255del, NG_046601.1:g.48243_48255del, NG_046601.1:g.48244_48255del, NG_046601.1:g.48245_48255del, NG_046601.1:g.48246_48255del, NG_046601.1:g.48247_48255del, NG_046601.1:g.48248_48255del, NG_046601.1:g.48249_48255del, NG_046601.1:g.48250_48255del, NG_046601.1:g.48251_48255del, NG_046601.1:g.48252_48255del, NG_046601.1:g.48253_48255del, NG_046601.1:g.48254_48255del, NG_046601.1:g.48255del, NG_046601.1:g.48255dup, NG_046601.1:g.48254_48255dup, NG_046601.1:g.48253_48255dup, NG_046601.1:g.48252_48255dup, NG_046601.1:g.48251_48255dup, NG_046601.1:g.48250_48255dup, NG_046601.1:g.48249_48255dup, NG_046601.1:g.48248_48255dup, NG_046601.1:g.48247_48255dup, NG_046601.1:g.48246_48255dup, NG_046601.1:g.48245_48255dup, NG_046601.1:g.48244_48255dup, NG_046601.1:g.48243_48255dup, NG_046601.1:g.48242_48255dup, NG_046601.1:g.48241_48255dup, NG_046601.1:g.48240_48255dup, NG_046601.1:g.48239_48255dup, NG_046601.1:g.48238_48255dup, NG_046601.1:g.48236_48255dup, NG_046601.1:g.48234_48255dup, NG_046601.1:g.48232_48255dup, NG_046601.1:g.48231_48255dup, NG_046601.1:g.48255_48256insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046601.1:g.48255_48256insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046601.1:g.48255_48256insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046601.1:g.48255_48256insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046601.1:g.48255_48256insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046601.1:g.48255_48256insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046601.1:g.48255_48256insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046601.1:g.48255_48256insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046601.1:g.48231_48255T[33]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_046601.1:g.48231_48255T[51]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_046601.1:g.48231_48255T[52]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_046601.1:g.48231_48255T[53]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_046601.1:g.48231_48255T[39]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 149109466311.

rs1491094663 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CAC,CACAC [Show Flanks]
Chromosome:: 1:151417730 (GRCh38)
1:151390207 (GRCh37)
Canonical SPDI:: NC_000001.11:151417730::C,NC_000001.11:151417730::CAC,NC_000001.11:151417730::CACAC
Gene:: POGZ (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000072/9 (GnomAD)
CACAC=0.000179/3 (TOMMO)
HGVS:: NC_000001.11:g.151417730_151417731insC, NC_000001.11:g.151417730_151417731insCAC, NC_000001.11:g.151417730_151417731insCACAC, NC_000001.10:g.151390206_151390207insC, NC_000001.10:g.151390206_151390207insCAC, NC_000001.10:g.151390206_151390207insCACAC, NG_046601.1:g.46735_46736insG, NG_046601.1:g.46735_46736insGTG, NG_046601.1:g.46735_46736insGTGTG

Select item 149106244512.

rs1491062445 has merged into rs10711955 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 1:151446188 (GRCh38)
1:151418664 (GRCh37)
Canonical SPDI:: NC_000001.11:151446177:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:151446177:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:151446177:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:151446177:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:151446177:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:151446177:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: POGZ (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0./0 (ALSPAC)
A=0./0 (TWINSUK)
A=0.0275/15 (NorthernSweden)
A=0.125/5 (GENOME_DK)
HGVS:: NC_000001.11:g.151446188_151446191del, NC_000001.11:g.151446189_151446191del, NC_000001.11:g.151446190_151446191del, NC_000001.11:g.151446191del, NC_000001.11:g.151446191dup, NC_000001.11:g.151446190_151446191dup, NC_000001.10:g.151418664_151418667del, NC_000001.10:g.151418665_151418667del, NC_000001.10:g.151418666_151418667del, NC_000001.10:g.151418667del, NC_000001.10:g.151418667dup, NC_000001.10:g.151418666_151418667dup, NG_046601.1:g.18285_18288del, NG_046601.1:g.18286_18288del, NG_046601.1:g.18287_18288del, NG_046601.1:g.18288del, NG_046601.1:g.18288dup, NG_046601.1:g.18287_18288dup

Select item 149100918213.

rs1491009182 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:151408250 (GRCh38)
1:151380727 (GRCh37)
Canonical SPDI:: NC_000001.11:151408250::G
Gene:: POGZ (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.1226/206 (ALFA)
HGVS:: NC_000001.11:g.151408250_151408251insG, NC_000001.10:g.151380726_151380727insG, NG_046601.1:g.56215_56216insC

Select item 149098881314.

rs1490988813 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGCC>-,GGCCGGCC [Show Flanks]
Chromosome:: 1:151458855 (GRCh38)
1:151431331 (GRCh37)
Canonical SPDI:: NC_000001.11:151458849:CGGCCGGCC:CGGCC,NC_000001.11:151458849:CGGCCGGCC:CGGCCGGCCGGCC
Gene:: POGZ (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGGCCGGCCGGCC=0./0 (ALFA)
-=0.00016/1 (1000Genomes)
HGVS:: NC_000001.11:g.151458851GGCC[1], NC_000001.11:g.151458851GGCC[3], NC_000001.10:g.151431327GGCC[1], NC_000001.10:g.151431327GGCC[3], NG_046601.1:g.5609GCCG[1], NG_046601.1:g.5609GCCG[3]

Select item 149092307615.

rs1490923076 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:151447637 (GRCh38)
1:151420113 (GRCh37)
Canonical SPDI:: NC_000001.11:151447636:G:A,NC_000001.11:151447636:G:C
Gene:: POGZ (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000016/2 (GnomAD)
HGVS:: NC_000001.11:g.151447637G>A, NC_000001.11:g.151447637G>C, NC_000001.10:g.151420113G>A, NC_000001.10:g.151420113G>C, NG_046601.1:g.16829C>T, NG_046601.1:g.16829C>G

Select item 149090123316.

rs1490901233 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:151439572 (GRCh38)
1:151412048 (GRCh37)
Canonical SPDI:: NC_000001.11:151439571:A:G
Gene:: POGZ (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.151439572A>G, NC_000001.10:g.151412048A>G, NG_046601.1:g.24894T>C

Select item 149088590217.

rs1490885902 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151433523 (GRCh38)
1:151405999 (GRCh37)
Canonical SPDI:: NC_000001.11:151433522:G:A
Gene:: POGZ (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.151433523G>A, NC_000001.10:g.151405999G>A, NG_046601.1:g.30943C>T

Select item 149081137718.

rs1490811377 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:151418286 (GRCh38)
1:151390762 (GRCh37)
Canonical SPDI:: NC_000001.11:151418285:A:G
Gene:: POGZ (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.151418286A>G, NC_000001.10:g.151390762A>G, NG_046601.1:g.46180T>C

Select item 149069321019.

rs1490693210 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:151453176 (GRCh38)
1:151425652 (GRCh37)
Canonical SPDI:: NC_000001.11:151453175:T:G
Gene:: POGZ (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.151453176T>G, NC_000001.10:g.151425652T>G, NG_046601.1:g.11290A>C

Select item 149054511420.

rs1490545114 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:151410545 (GRCh38)
1:151383021 (GRCh37)
Canonical SPDI:: NC_000001.11:151410544:A:G
Gene:: POGZ (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.151410545A>G, NC_000001.10:g.151383021A>G, NG_046601.1:g.53921T>C

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