PIP4K2B - SNP

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Select item 255401.

rs25540 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAAT,AAGT,AAT [Show Flanks]
Chromosome:: 17:38771437 (GRCh38)
17:36927691 (GRCh37)
Canonical SPDI:: NC_000017.11:38771437:T:TAAAT,NC_000017.11:38771437:T:TAAGT,NC_000017.11:38771437:T:TAAT
Gene:: PIP4K2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.14664/664 (ALFA)
-=0.0005/8 (TOMMO)
-=0.04606/231 (1000Genomes)
-=0.12625/126 (GoNL)
-=0.13266/593 (Estonian)
-=0.16833/101 (NorthernSweden)
-=0.175/7 (GENOME_DK)
HGVS:: NC_000017.11:g.38771438_38771439insAAAT, NC_000017.11:g.38771438_38771439insAAGT, NC_000017.11:g.38771438_38771439insAAT, NC_000017.10:g.36927691_36927692insAAAT, NC_000017.10:g.36927691_36927692insAAGT, NC_000017.10:g.36927691_36927692insAAT, NT_187614.1:g.2806757_2806758insAAAT, NT_187614.1:g.2806757_2806758insAAGT, NT_187614.1:g.2806757_2806758insAAT

Select item 1153272.

rs115327 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:38797748 (GRCh38)
17:36954001 (GRCh37)
Canonical SPDI:: NC_000017.11:38797747:T:C
Gene:: PIP4K2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.329915/71038 (ALFA)
C=0.291741/1307 (Estonian)
C=0.306709/192 (Chileans)
C=0.319444/69 (Qatari)
C=0.321492/362 (Daghestan)
C=0.322003/1241 (ALSPAC)
C=0.325512/1207 (TWINSUK)
C=0.328309/45918 (GnomAD)
C=0.328328/962 (KOREAN)
C=0.329706/87270 (TOPMED)
C=0.333333/70 (Vietnamese)
C=0.333857/68466 (GENOGRAPHIC)
C=0.335/201 (NorthernSweden)
C=0.335413/699 (HGDP_Stanford)
C=0.348532/1745 (1000Genomes)
C=0.357294/676 (HapMap)
C=0.361723/361 (GoNL)
T=0.374214/119 (SGDP_PRJ)
T=0.375/9 (Siberian)
C=0.399639/6698 (TOMMO)
C=0.425/17 (GENOME_DK)
C=0.466667/42 (PRJEB36033)
HGVS:: NC_000017.11:g.38797748T>C, NC_000017.10:g.36954001T>C, NT_187614.1:g.2833067T>C

Select item 2282313.

rs228231 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:38799501 (GRCh38)
17:36955754 (GRCh37)
Canonical SPDI:: NC_000017.11:38799500:C:G,NC_000017.11:38799500:C:T
Gene:: PIP4K2B (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.38799501C>G, NC_000017.11:g.38799501C>T, NC_000017.10:g.36955754C>G, NC_000017.10:g.36955754C>T, NT_187614.1:g.2834820C>G, NT_187614.1:g.2834820C>T, NM_003559.5:c.-77G>C, NM_003559.5:c.-77G>A, NM_003559.4:c.-77G>C, NM_003559.4:c.-77G>A, XM_011525326.4:c.-77G>C, XM_011525326.4:c.-77G>A, XM_011525326.3:c.-77G>C, XM_011525326.3:c.-77G>A, XM_011525326.2:c.-77G>C, XM_011525326.2:c.-77G>A, XM_011525326.1:c.-77G>C, XM_011525326.1:c.-77G>A, XM_011525327.3:c.-400G>C, XM_011525327.3:c.-400G>A, XM_047436888.1:c.-429G>C, XM_047436888.1:c.-429G>A, XM_047436889.1:c.-429G>C, XM_047436889.1:c.-429G>A, NM_138687.1:c.-77G>C, NM_138687.1:c.-77G>A

Select item 2282324.

rs228232 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:38798792 (GRCh38)
17:36955045 (GRCh37)
Canonical SPDI:: NC_000017.11:38798791:A:G
Gene:: PIP4K2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.251233/36989 (ALFA)
G=0.188333/113 (NorthernSweden)
G=0.200446/898 (Estonian)
G=0.222222/48 (Qatari)
G=0.231392/858 (TWINSUK)
G=0.233783/901 (ALSPAC)
G=0.253507/253 (GoNL)
G=0.280546/822 (KOREAN)
G=0.28972/62 (Vietnamese)
G=0.347061/48574 (GnomAD)
G=0.363968/6100 (TOMMO)
G=0.364332/96435 (TOPMED)
A=0.369281/113 (SGDP_PRJ)
G=0.375/15 (GENOME_DK)
G=0.387258/1939 (1000Genomes)
G=0.409524/774 (HapMap)
A=0.428571/12 (Siberian)
HGVS:: NC_000017.11:g.38798792A>G, NC_000017.10:g.36955045A>G, NT_187614.1:g.2834111A>G

Select item 2282335.

rs228233 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:38796155 (GRCh38)
17:36952408 (GRCh37)
Canonical SPDI:: NC_000017.11:38796154:C:A
Gene:: PIP4K2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.283325/5352 (ALFA)
A=0.188333/113 (NorthernSweden)
A=0.200446/898 (Estonian)
A=0.212963/46 (Qatari)
A=0.230583/855 (TWINSUK)
A=0.234043/902 (ALSPAC)
A=0.254509/254 (GoNL)
A=0.276451/810 (KOREAN)
A=0.340992/47713 (GnomAD)
A=0.357807/94708 (TOPMED)
A=0.363578/6094 (TOMMO)
C=0.368421/112 (SGDP_PRJ)
A=0.379919/1903 (1000Genomes)
C=0.428571/12 (Siberian)
HGVS:: NC_000017.11:g.38796155C>A, NC_000017.10:g.36952408C>A, NT_187614.1:g.2831474C>A

Select item 2282346.

rs228234 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 17:38795057 (GRCh38)
17:36951310 (GRCh37)
Canonical SPDI:: NC_000017.11:38795056:A:C,NC_000017.11:38795056:A:G,NC_000017.11:38795056:A:T
Gene:: PIP4K2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0./0 (1000Genomes)
A=0./0 (ALSPAC)
A=0./0 (GENOME_DK)
T=0./0 (KOREAN)
A=0./0 (NorthernSweden)
A=0./0 (Qatari)
A=0./0 (SGDP_PRJ)
A=0./0 (Siberian)
A=0.000068/18 (TOPMED)
A=0.000152/20 (GnomAD)
A=0.00027/1 (TWINSUK)
A=0.004476/20 (Estonian)
A=0.005203/84 (TOMMO)
HGVS:: NC_000017.11:g.38795057A>C, NC_000017.11:g.38795057A>G, NC_000017.11:g.38795057A>T, NC_000017.10:g.36951310A>C, NC_000017.10:g.36951310A>G, NC_000017.10:g.36951310A>T, NT_187614.1:g.2830376A>C, NT_187614.1:g.2830376A>G, NT_187614.1:g.2830376A>T

Select item 2282357.

rs228235 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:38795050 (GRCh38)
17:36951303 (GRCh37)
Canonical SPDI:: NC_000017.11:38795049:A:C,NC_000017.11:38795049:A:G
Gene:: PIP4K2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.07286/813 (ALFA)
G=0.12617/27 (Qatari)
G=0.18105/810 (Estonian)
G=0.18167/109 (NorthernSweden)
G=0.20721/1038 (1000Genomes)
G=0.23819/696 (KOREAN)
G=0.23948/239 (GoNL)
G=0.30809/5106 (TOMMO)
A=0.38889/7 (Siberian)
A=0.41406/106 (SGDP_PRJ)
HGVS:: NC_000017.11:g.38795050A>C, NC_000017.11:g.38795050A>G, NC_000017.10:g.36951303A>C, NC_000017.10:g.36951303A>G, NT_187614.1:g.2830369A>C, NT_187614.1:g.2830369A>G

Select item 2282368.

rs228236 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:38794596 (GRCh38)
17:36950849 (GRCh37)
Canonical SPDI:: NC_000017.11:38794595:A:G
Gene:: PIP4K2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.256438/4282 (ALFA)
G=0.16/96 (NorthernSweden)
G=0.194444/42 (Qatari)
G=0.225998/838 (TWINSUK)
G=0.230929/890 (ALSPAC)
G=0.239259/25439 (GnomAD)
G=0.27363/799 (KOREAN)
G=0.311916/5145 (TOMMO)
G=0.341349/1709 (1000Genomes)
A=0.37415/110 (SGDP_PRJ)
G=0.375/15 (GENOME_DK)
A=0.428571/12 (Siberian)
HGVS:: NC_000017.11:g.38794596A>G, NC_000017.10:g.36950849A>G, NT_187614.1:g.2829915A>G

Select item 2282379.

rs228237 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 17:38794557 (GRCh38)
17:36950810 (GRCh37)
Canonical SPDI:: NC_000017.11:38794556:C:A,NC_000017.11:38794556:C:G,NC_000017.11:38794556:C:T
Gene:: PIP4K2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.093827/994 (ALFA)
G=0.188136/111 (NorthernSweden)
G=0.193823/866 (Estonian)
G=0.212963/46 (Qatari)
G=0.227346/843 (TWINSUK)
G=0.231448/892 (ALSPAC)
G=0.254509/254 (GoNL)
G=0.278919/815 (KOREAN)
G=0.309934/34976 (GnomAD)
G=0.350048/5815 (TOMMO)
G=0.357947/94745 (TOPMED)
C=0.36755/111 (SGDP_PRJ)
G=0.375/15 (GENOME_DK)
G=0.379763/1902 (1000Genomes)
C=0.428571/12 (Siberian)
HGVS:: NC_000017.11:g.38794557C>A, NC_000017.11:g.38794557C>G, NC_000017.11:g.38794557C>T, NC_000017.10:g.36950810C>A, NC_000017.10:g.36950810C>G, NC_000017.10:g.36950810C>T, NT_187614.1:g.2829876C>A, NT_187614.1:g.2829876C>G, NT_187614.1:g.2829876C>T

Select item 22823810.

rs228238 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 17:38794492 (GRCh38)
17:36950745 (GRCh37)
Canonical SPDI:: NC_000017.11:38794491:C:A,NC_000017.11:38794491:C:G
Gene:: PIP4K2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.138077/1890 (ALFA)
A=0.185567/108 (NorthernSweden)
A=0.191203/839 (Estonian)
A=0.194444/42 (Qatari)
A=0.230313/854 (TWINSUK)
A=0.234302/903 (ALSPAC)
A=0.254509/254 (GoNL)
A=0.291438/851 (KOREAN)
A=0.317972/84164 (TOPMED)
A=0.318027/39263 (GnomAD)
A=0.339475/1700 (1000Genomes)
A=0.340188/5680 (TOMMO)
A=0.375/15 (GENOME_DK)
C=0.375839/112 (SGDP_PRJ)
C=0.428571/12 (Siberian)
HGVS:: NC_000017.11:g.38794492C>A, NC_000017.11:g.38794492C>G, NC_000017.10:g.36950745C>A, NC_000017.10:g.36950745C>G, NT_187614.1:g.2829811C>A, NT_187614.1:g.2829811C>G

Select item 22823911.

rs228239 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 17:38793172 (GRCh38)
17:36949425 (GRCh37)
Canonical SPDI:: NC_000017.11:38793171:G:A,NC_000017.11:38793171:G:C,NC_000017.11:38793171:G:T
Gene:: PIP4K2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.125/27 (Qatari)
A=0.181667/109 (NorthernSweden)
A=0.207639/54960 (TOPMED)
A=0.210337/1053 (1000Genomes)
A=0.214132/794 (TWINSUK)
A=0.22081/851 (ALSPAC)
A=0.240273/704 (KOREAN)
A=0.240481/240 (GoNL)
G=0.388889/7 (Siberian)
G=0.416667/95 (SGDP_PRJ)
HGVS:: NC_000017.11:g.38793172G>A, NC_000017.11:g.38793172G>C, NC_000017.11:g.38793172G>T, NC_000017.10:g.36949425G>A, NC_000017.10:g.36949425G>C, NC_000017.10:g.36949425G>T, NT_187614.1:g.2828491G>A, NT_187614.1:g.2828491G>C, NT_187614.1:g.2828491G>T

Select item 22824012.

rs228240 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:38792732 (GRCh38)
17:36948985 (GRCh37)
Canonical SPDI:: NC_000017.11:38792731:G:A,NC_000017.11:38792731:G:T
Gene:: PIP4K2B (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.1132/1957 (ALFA)
A=0.12963/28 (Qatari)
A=0.184598/827 (Estonian)
A=0.185/111 (NorthernSweden)
A=0.212325/29723 (GnomAD)
A=0.214132/794 (TWINSUK)
A=0.221069/852 (ALSPAC)
A=0.222676/58940 (TOPMED)
A=0.226415/48 (Vietnamese)
A=0.227202/1138 (1000Genomes)
A=0.239479/239 (GoNL)
A=0.240614/705 (KOREAN)
A=0.310345/18 (PRJEB36033)
A=0.314106/5264 (TOMMO)
A=0.35/14 (GENOME_DK)
G=0.388889/7 (Siberian)
G=0.413223/100 (SGDP_PRJ)
HGVS:: NC_000017.11:g.38792732G>A, NC_000017.11:g.38792732G>T, NC_000017.10:g.36948985G>A, NC_000017.10:g.36948985G>T, NT_187614.1:g.2828051G>A, NT_187614.1:g.2828051G>T, XM_047436888.1:c.-40C>T, XM_047436888.1:c.-40C>A, XM_047436889.1:c.-40C>T, XM_047436889.1:c.-40C>A

Select item 22824113.

rs228241 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:38792091 (GRCh38)
17:36948344 (GRCh37)
Canonical SPDI:: NC_000017.11:38792090:G:A,NC_000017.11:38792090:G:T
Gene:: PIP4K2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.211121/51581 (ALFA)
A=0.125/27 (Qatari)
A=0.167939/132 (PRJEB37584)
A=0.170522/752 (Estonian)
A=0.177365/105 (NorthernSweden)
A=0.19877/27548 (GnomAD)
A=0.207911/55032 (TOPMED)
A=0.210583/390 (HapMap)
A=0.21065/1055 (1000Genomes)
A=0.213323/791 (TWINSUK)
A=0.218993/844 (ALSPAC)
A=0.220932/17371 (PAGE_STUDY)
A=0.238567/699 (KOREAN)
A=0.313606/5254 (TOMMO)
A=0.35/14 (GENOME_DK)
G=0.388889/7 (Siberian)
G=0.412281/94 (SGDP_PRJ)
HGVS:: NC_000017.11:g.38792091G>A, NC_000017.11:g.38792091G>T, NC_000017.10:g.36948344G>A, NC_000017.10:g.36948344G>T, NT_187614.1:g.2827410G>A, NT_187614.1:g.2827410G>T

Select item 22824214.

rs228242 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:38791994 (GRCh38)
17:36948247 (GRCh37)
Canonical SPDI:: NC_000017.11:38791993:G:A,NC_000017.11:38791993:G:C
Gene:: PIP4K2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.189929/3519 (ALFA)
A=0.125/27 (Qatari)
A=0.182143/816 (Estonian)
A=0.185/111 (NorthernSweden)
A=0.198249/27701 (GnomAD)
A=0.201923/42 (Vietnamese)
A=0.207851/55016 (TOPMED)
A=0.21065/1055 (1000Genomes)
A=0.238225/698 (KOREAN)
A=0.312973/5245 (TOMMO)
A=0.368421/14 (GENOME_DK)
G=0.388889/7 (Siberian)
G=0.412281/94 (SGDP_PRJ)
HGVS:: NC_000017.11:g.38791994G>A, NC_000017.11:g.38791994G>C, NC_000017.10:g.36948247G>A, NC_000017.10:g.36948247G>C, NT_187614.1:g.2827313G>A, NT_187614.1:g.2827313G>C

Select item 22825015.

rs228250 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:38800795 (GRCh38)
17:36957048 (GRCh37)
Canonical SPDI:: NC_000017.11:38800794:G:A,NC_000017.11:38800794:G:T
Gene:: PIP4K2B (Varview), CWC25 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.132805/2714 (ALFA)
A=0.125/27 (Qatari)
A=0.182366/817 (Estonian)
A=0.183333/110 (NorthernSweden)
A=0.200846/380 (HapMap)
A=0.202901/28379 (GnomAD)
A=0.212807/56328 (TOPMED)
A=0.214286/45 (Vietnamese)
A=0.214401/795 (TWINSUK)
A=0.217652/1090 (1000Genomes)
A=0.22055/850 (ALSPAC)
A=0.238567/699 (KOREAN)
A=0.239479/239 (GoNL)
A=0.314379/5269 (TOMMO)
G=0.388889/7 (Siberian)
G=0.418803/98 (SGDP_PRJ)
HGVS:: NC_000017.11:g.38800795G>A, NC_000017.11:g.38800795G>T, NC_000017.10:g.36957048G>A, NC_000017.10:g.36957048G>T, NT_187614.1:g.2836114G>A, NT_187614.1:g.2836114G>T, NM_017748.5:c.*1297C>T, NM_017748.5:c.*1297C>A, NM_017748.4:c.*1297C>T, NM_017748.4:c.*1297C>A, NR_073428.2:n.2830C>T, NR_073428.2:n.2830C>A, NR_073428.1:n.2859C>T, NR_073428.1:n.2859C>A

Select item 22828416.

rs228284 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38765395 (GRCh38)
17:36921648 (GRCh37)
Canonical SPDI:: NC_000017.11:38765394:C:T
Gene:: PIP4K2B (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.264637/11381 (ALFA)
T=0.171205/767 (Estonian)
T=0.193333/116 (NorthernSweden)
T=0.21588/832 (ALSPAC)
T=0.230583/855 (TWINSUK)
T=0.241483/241 (GoNL)
T=0.275/11 (GENOME_DK)
T=0.300087/41987 (GnomAD)
T=0.321025/84972 (TOPMED)
T=0.324074/70 (Qatari)
T=0.345794/74 (Vietnamese)
T=0.353925/1037 (KOREAN)
C=0.365625/117 (SGDP_PRJ)
T=0.39366/1971 (1000Genomes)
C=0.4375/14 (Siberian)
T=0.447165/7494 (TOMMO)
HGVS:: NC_000017.11:g.38765395C>T, NC_000017.10:g.36921648C>T, NT_187614.1:g.2800714C>T

Select item 22828517.

rs228285 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:38766257 (GRCh38)
17:36922510 (GRCh37)
Canonical SPDI:: NC_000017.11:38766256:G:A
Gene:: PIP4K2B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.24463/51021 (ALFA)
A=0.003745/2 (MGP)
A=0.171205/767 (Estonian)
A=0.193333/116 (NorthernSweden)
A=0.21588/832 (ALSPAC)
A=0.222222/16 (PRJEB36033)
A=0.230583/855 (TWINSUK)
A=0.241483/241 (GoNL)
A=0.260383/163 (Chileans)
A=0.275/11 (GENOME_DK)
A=0.300011/42022 (GnomAD)
A=0.321043/84977 (TOPMED)
A=0.324074/70 (Qatari)
A=0.337812/704 (HGDP_Stanford)
A=0.352381/74 (Vietnamese)
A=0.353242/1035 (KOREAN)
G=0.365625/117 (SGDP_PRJ)
A=0.388478/735 (HapMap)
A=0.392378/30797 (PAGE_STUDY)
A=0.393816/1972 (1000Genomes)
G=0.4375/14 (Siberian)
A=0.44759/7502 (TOMMO)
HGVS:: NC_000017.11:g.38766257G>A, NC_000017.10:g.36922510G>A, NT_187614.1:g.2801576G>A, NM_003559.5:c.*3434C>T, NM_003559.4:c.*3434C>T, XM_011525326.4:c.*3434C>T, XM_011525326.3:c.*3434C>T, XM_011525326.2:c.*3434C>T, XM_011525326.1:c.*3434C>T, XM_011525327.3:c.*3434C>T, XM_011525327.2:c.*3434C>T, XM_011525327.1:c.*3434C>T, XM_011525330.2:c.*3434C>T, XM_011525330.1:c.*3434C>T, XM_047436888.1:c.*3434C>T, XM_047436890.1:c.*3434C>T, XM_047436889.1:c.*3434C>T

Select item 22828618.

rs228286 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 17:38766586 (GRCh38)
17:36922839 (GRCh37)
Canonical SPDI:: NC_000017.11:38766585:C:A,NC_000017.11:38766585:C:G
Gene:: PIP4K2B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.242946/4443 (ALFA)
G=0.171205/767 (Estonian)
G=0.193333/116 (NorthernSweden)
G=0.216139/833 (ALSPAC)
G=0.23221/124 (MGP)
G=0.23274/863 (TWINSUK)
G=0.242485/242 (GoNL)
G=0.275/11 (GENOME_DK)
G=0.300998/42121 (GnomAD)
G=0.322018/85235 (TOPMED)
G=0.324074/70 (Qatari)
G=0.341121/73 (Vietnamese)
G=0.353925/1037 (KOREAN)
C=0.360248/116 (SGDP_PRJ)
G=0.391374/735 (HapMap)
G=0.396939/1988 (1000Genomes)
C=0.4375/14 (Siberian)
G=0.447272/7496 (TOMMO)
HGVS:: NC_000017.11:g.38766586C>A, NC_000017.11:g.38766586C>G, NC_000017.10:g.36922839C>A, NC_000017.10:g.36922839C>G, NT_187614.1:g.2801905C>A, NT_187614.1:g.2801905C>G, NM_003559.5:c.*3105G>T, NM_003559.5:c.*3105G>C, NM_003559.4:c.*3105G>T, NM_003559.4:c.*3105G>C, XM_011525326.4:c.*3105G>T, XM_011525326.4:c.*3105G>C, XM_011525326.3:c.*3105G>T, XM_011525326.3:c.*3105G>C, XM_011525326.2:c.*3105G>T, XM_011525326.2:c.*3105G>C, XM_011525326.1:c.*3105G>T, XM_011525326.1:c.*3105G>C, XM_011525327.3:c.*3105G>T, XM_011525327.3:c.*3105G>C, XM_011525327.2:c.*3105G>T, XM_011525327.2:c.*3105G>C, XM_011525327.1:c.*3105G>T, XM_011525327.1:c.*3105G>C, XM_011525330.2:c.*3105G>T, XM_011525330.2:c.*3105G>C, XM_011525330.1:c.*3105G>T, XM_011525330.1:c.*3105G>C, XM_047436888.1:c.*3105G>T, XM_047436888.1:c.*3105G>C, XM_047436890.1:c.*3105G>T, XM_047436890.1:c.*3105G>C, XM_047436889.1:c.*3105G>T, XM_047436889.1:c.*3105G>C

Select item 22828719.

rs228287 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:38769230 (GRCh38)
17:36925483 (GRCh37)
Canonical SPDI:: NC_000017.11:38769229:C:G,NC_000017.11:38769229:C:T
Gene:: PIP4K2B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.223807/30654 (ALFA)
T=0.15692/703 (Estonian)
T=0.166667/100 (NorthernSweden)
T=0.187597/723 (ALSPAC)
T=0.198759/737 (TWINSUK)
T=0.218437/218 (GoNL)
T=0.225/9 (GENOME_DK)
T=0.250799/157 (Chileans)
T=0.284318/39759 (GnomAD)
T=0.305138/80767 (TOPMED)
T=0.308411/66 (Vietnamese)
T=0.319444/69 (Qatari)
T=0.330375/968 (KOREAN)
C=0.373377/115 (SGDP_PRJ)
T=0.381324/1910 (1000Genomes)
T=0.392473/657 (HapMap)
C=0.423077/11 (Siberian)
T=0.434001/7274 (TOMMO)
HGVS:: NC_000017.11:g.38769230C>G, NC_000017.11:g.38769230C>T, NC_000017.10:g.36925483C>G, NC_000017.10:g.36925483C>T, NT_187614.1:g.2804549C>G, NT_187614.1:g.2804549C>T, NM_003559.5:c.*461G>C, NM_003559.5:c.*461G>A, NM_003559.4:c.*461G>C, NM_003559.4:c.*461G>A, XM_011525326.4:c.*461G>C, XM_011525326.4:c.*461G>A, XM_011525326.3:c.*461G>C, XM_011525326.3:c.*461G>A, XM_011525326.2:c.*461G>C, XM_011525326.2:c.*461G>A, XM_011525326.1:c.*461G>C, XM_011525326.1:c.*461G>A, XM_011525327.3:c.*461G>C, XM_011525327.3:c.*461G>A, XM_011525327.2:c.*461G>C, XM_011525327.2:c.*461G>A, XM_011525327.1:c.*461G>C, XM_011525327.1:c.*461G>A, XM_011525330.2:c.*461G>C, XM_011525330.2:c.*461G>A, XM_011525330.1:c.*461G>C, XM_011525330.1:c.*461G>A, XM_047436889.1:c.*461G>C, XM_047436889.1:c.*461G>A, XM_047436890.1:c.*461G>C, XM_047436890.1:c.*461G>A, XM_047436888.1:c.*461G>C, XM_047436888.1:c.*461G>A

Select item 22828820.

rs228288 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:38769928 (GRCh38)
17:36926181 (GRCh37)
Canonical SPDI:: NC_000017.11:38769927:T:A
Gene:: PIP4K2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.162208/3420 (ALFA)
A=0.037453/20 (MGP)
A=0.115741/25 (Qatari)
A=0.116667/70 (NorthernSweden)
A=0.140848/631 (Estonian)
A=0.167846/23428 (GnomAD)
A=0.177218/683 (ALSPAC)
A=0.18123/672 (TWINSUK)
A=0.181786/48117 (TOPMED)
A=0.193387/193 (GoNL)
A=0.208772/238 (HapMap)
A=0.227202/1138 (1000Genomes)
A=0.268868/57 (Vietnamese)
A=0.275/11 (GENOME_DK)
A=0.320329/936 (KOREAN)
T=0.409091/99 (SGDP_PRJ)
A=0.414537/6948 (TOMMO)
T=0.423077/11 (Siberian)
HGVS:: NC_000017.11:g.38769928T>A, NC_000017.10:g.36926181T>A, NT_187614.1:g.2805247T>A

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