rs11033637

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

PRR5L : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0478 (14316/29926,GnomAD)
A=0444 (12932/29118,TOPMED)
G==0488 (2444/5008,1000G)
G==0430 (1659/3854,ALSPAC)
G==0440 (1631/3708,TWINSUK)

Position: chr11:36458239 (GRCh38.p7) (11p12)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 327 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 11	NC_000011.10:g.36458239G>A
GRCh37.p13 chr 11	NC_000011.9:g.36479789G>A

Gene: PRR5L, proline rich 5 like(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PRR5L transcript variant 1	NM_001160167.1:c.	N/A	Intron Variant
PRR5L transcript variant 3	NM_001160168.1:c.	N/A	Intron Variant
PRR5L transcript variant 4	NM_001160169.1:c.	N/A	Intron Variant
PRR5L transcript variant 2	NM_024841.4:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.782	A=0.218
1000Genomes	American	Sub	694	G=0.450	A=0.550
1000Genomes	East Asian	Sub	1008	G=0.342	A=0.658
1000Genomes	Europe	Sub	1006	G=0.451	A=0.549
1000Genomes	Global	Study-wide	5008	G=0.488	A=0.512
1000Genomes	South Asian	Sub	978	G=0.310	A=0.690
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.430	A=0.570
The Genome Aggregation Database	African	Sub	8710	G=0.723	A=0.277
The Genome Aggregation Database	American	Sub	838	G=0.400	A=0.600
The Genome Aggregation Database	East Asian	Sub	1616	G=0.295	A=0.705
The Genome Aggregation Database	Europe	Sub	18460	G=0.453	A=0.547
The Genome Aggregation Database	Global	Study-wide	29926	G=0.521	A=0.478
The Genome Aggregation Database	Other	Sub	302	G=0.460	A=0.540
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.555	A=0.444
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.440	A=0.560

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

P-Value

SNP ID	p-value	Traits	Study
rs11033637	0.00095	alcohol dependence	20201924

eQTL of rs11033637 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr11:36479789	PRR5L	ENSG00000135362.9	G>A	2.9331e-2	161951	Cortex

meQTL of rs11033637 in Fetal Brain

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr11	36432568	36433744	E067	-46045
chr11	36433832	36433907	E067	-45882
chr11	36434322	36434441	E067	-45348
chr11	36448541	36448734	E067	-31055
chr11	36448766	36449026	E067	-30763
chr11	36449122	36449371	E067	-30418
chr11	36449443	36449523	E067	-30266
chr11	36449570	36449710	E067	-30079
chr11	36450055	36450133	E067	-29656
chr11	36452359	36452409	E067	-27380
chr11	36452596	36453089	E067	-26700
chr11	36464360	36464422	E067	-15367
chr11	36471456	36472288	E067	-7501
chr11	36472336	36472394	E067	-7395
chr11	36472479	36472548	E067	-7241
chr11	36472621	36472756	E067	-7033
chr11	36472814	36472864	E067	-6925
chr11	36472992	36473379	E067	-6410
chr11	36473400	36473657	E067	-6132
chr11	36473699	36473787	E067	-6002
chr11	36473845	36474881	E067	-4908
chr11	36475038	36475215	E067	-4574
chr11	36475229	36475571	E067	-4218
chr11	36476351	36478231	E067	-1558
chr11	36491764	36491976	E067	11975
chr11	36492113	36492281	E067	12324
chr11	36492366	36492416	E067	12577
chr11	36500000	36500085	E067	20211
chr11	36500135	36500250	E067	20346
chr11	36500264	36500684	E067	20475
chr11	36500686	36500761	E067	20897
chr11	36514254	36514835	E067	34465
chr11	36520679	36521129	E067	40890
chr11	36521842	36522456	E067	42053
chr11	36522592	36522733	E067	42803
chr11	36522784	36522865	E067	42995
chr11	36522887	36523088	E067	43098
chr11	36523569	36523723	E067	43780
chr11	36523731	36523860	E067	43942
chr11	36524103	36524275	E067	44314
chr11	36524410	36524859	E067	44621
chr11	36432568	36433744	E068	-46045
chr11	36434480	36434813	E068	-44976
chr11	36434845	36434990	E068	-44799
chr11	36447915	36448462	E068	-31327
chr11	36448541	36448734	E068	-31055
chr11	36449443	36449523	E068	-30266
chr11	36449570	36449710	E068	-30079
chr11	36450055	36450133	E068	-29656
chr11	36470970	36471076	E068	-8713
chr11	36471243	36471386	E068	-8403
chr11	36471456	36472288	E068	-7501
chr11	36472336	36472394	E068	-7395
chr11	36472479	36472548	E068	-7241
chr11	36472621	36472756	E068	-7033
chr11	36472814	36472864	E068	-6925
chr11	36472992	36473379	E068	-6410
chr11	36473400	36473657	E068	-6132
chr11	36473699	36473787	E068	-6002
chr11	36476151	36476285	E068	-3504
chr11	36476351	36478231	E068	-1558
chr11	36491764	36491976	E068	11975
chr11	36492113	36492281	E068	12324
chr11	36492366	36492416	E068	12577
chr11	36492488	36492561	E068	12699
chr11	36500000	36500085	E068	20211
chr11	36514254	36514835	E068	34465
chr11	36521842	36522456	E068	42053
chr11	36522592	36522733	E068	42803
chr11	36522784	36522865	E068	42995
chr11	36522887	36523088	E068	43098
chr11	36523569	36523723	E068	43780
chr11	36523731	36523860	E068	43942
chr11	36524103	36524275	E068	44314
chr11	36524410	36524859	E068	44621
chr11	36432428	36432508	E069	-47281
chr11	36432568	36433744	E069	-46045
chr11	36433832	36433907	E069	-45882
chr11	36434322	36434441	E069	-45348
chr11	36434480	36434813	E069	-44976
chr11	36434845	36434990	E069	-44799
chr11	36448541	36448734	E069	-31055
chr11	36448766	36449026	E069	-30763
chr11	36449122	36449371	E069	-30418
chr11	36449443	36449523	E069	-30266
chr11	36449570	36449710	E069	-30079
chr11	36450055	36450133	E069	-29656
chr11	36452359	36452409	E069	-27380
chr11	36452596	36453089	E069	-26700
chr11	36453106	36453991	E069	-25798
chr11	36453999	36454120	E069	-25669
chr11	36457439	36457506	E069	-22283
chr11	36457763	36457905	E069	-21884
chr11	36457912	36457960	E069	-21829
chr11	36458108	36458165	E069	-21624
chr11	36470444	36470494	E069	-9295
chr11	36470530	36470616	E069	-9173
chr11	36470970	36471076	E069	-8713
chr11	36471243	36471386	E069	-8403
chr11	36471456	36472288	E069	-7501
chr11	36472336	36472394	E069	-7395
chr11	36472479	36472548	E069	-7241
chr11	36472621	36472756	E069	-7033
chr11	36472814	36472864	E069	-6925
chr11	36472992	36473379	E069	-6410
chr11	36473400	36473657	E069	-6132
chr11	36473699	36473787	E069	-6002
chr11	36473845	36474881	E069	-4908
chr11	36475038	36475215	E069	-4574
chr11	36476351	36478231	E069	-1558
chr11	36491764	36491976	E069	11975
chr11	36492113	36492281	E069	12324
chr11	36492366	36492416	E069	12577
chr11	36513768	36513929	E069	33979
chr11	36513976	36514064	E069	34187
chr11	36521842	36522456	E069	42053
chr11	36522592	36522733	E069	42803
chr11	36522784	36522865	E069	42995
chr11	36522887	36523088	E069	43098
chr11	36523569	36523723	E069	43780
chr11	36523731	36523860	E069	43942
chr11	36524103	36524275	E069	44314
chr11	36524410	36524859	E069	44621
chr11	36505908	36505958	E070	26119
chr11	36507022	36507131	E070	27233
chr11	36507245	36507618	E070	27456
chr11	36529566	36529759	E070	49777
chr11	36429955	36431553	E071	-48236
chr11	36432199	36432279	E071	-47510
chr11	36432288	36432388	E071	-47401
chr11	36432428	36432508	E071	-47281
chr11	36432568	36433744	E071	-46045
chr11	36433832	36433907	E071	-45882
chr11	36434322	36434441	E071	-45348
chr11	36434480	36434813	E071	-44976
chr11	36434845	36434990	E071	-44799
chr11	36437789	36437907	E071	-41882
chr11	36437946	36438014	E071	-41775
chr11	36438072	36438153	E071	-41636
chr11	36438190	36438240	E071	-41549
chr11	36438244	36438366	E071	-41423
chr11	36441863	36441953	E071	-37836
chr11	36442112	36443087	E071	-36702
chr11	36447140	36447844	E071	-31945
chr11	36447915	36448462	E071	-31327
chr11	36448541	36448734	E071	-31055
chr11	36448766	36449026	E071	-30763
chr11	36449122	36449371	E071	-30418
chr11	36449443	36449523	E071	-30266
chr11	36449570	36449710	E071	-30079
chr11	36452359	36452409	E071	-27380
chr11	36452596	36453089	E071	-26700
chr11	36453106	36453991	E071	-25798
chr11	36453999	36454120	E071	-25669
chr11	36457763	36457905	E071	-21884
chr11	36457912	36457960	E071	-21829
chr11	36458108	36458165	E071	-21624
chr11	36465262	36465489	E071	-14300
chr11	36470970	36471076	E071	-8713
chr11	36471243	36471386	E071	-8403
chr11	36472336	36472394	E071	-7395
chr11	36472479	36472548	E071	-7241
chr11	36472621	36472756	E071	-7033
chr11	36472814	36472864	E071	-6925
chr11	36472992	36473379	E071	-6410
chr11	36473400	36473657	E071	-6132
chr11	36473699	36473787	E071	-6002
chr11	36473845	36474881	E071	-4908
chr11	36475038	36475215	E071	-4574
chr11	36475229	36475571	E071	-4218
chr11	36475634	36475702	E071	-4087
chr11	36475799	36475998	E071	-3791
chr11	36476151	36476285	E071	-3504
chr11	36476351	36478231	E071	-1558
chr11	36479318	36479387	E071	-402
chr11	36482287	36482337	E071	2498
chr11	36491397	36491703	E071	11608
chr11	36491764	36491976	E071	11975
chr11	36492113	36492281	E071	12324
chr11	36492366	36492416	E071	12577
chr11	36499836	36499896	E071	20047
chr11	36499919	36499973	E071	20130
chr11	36500000	36500085	E071	20211
chr11	36500135	36500250	E071	20346
chr11	36500264	36500684	E071	20475
chr11	36521842	36522456	E071	42053
chr11	36522592	36522733	E071	42803
chr11	36522784	36522865	E071	42995
chr11	36522887	36523088	E071	43098
chr11	36523569	36523723	E071	43780
chr11	36523731	36523860	E071	43942
chr11	36524103	36524275	E071	44314
chr11	36524410	36524859	E071	44621
chr11	36525151	36525258	E071	45362
chr11	36529566	36529759	E071	49777
chr11	36432017	36432061	E072	-47728
chr11	36432092	36432164	E072	-47625
chr11	36432199	36432279	E072	-47510
chr11	36432288	36432388	E072	-47401
chr11	36432428	36432508	E072	-47281
chr11	36432568	36433744	E072	-46045
chr11	36433832	36433907	E072	-45882
chr11	36434480	36434813	E072	-44976
chr11	36434845	36434990	E072	-44799
chr11	36438072	36438153	E072	-41636
chr11	36449443	36449523	E072	-30266
chr11	36449570	36449710	E072	-30079
chr11	36452359	36452409	E072	-27380
chr11	36452596	36453089	E072	-26700
chr11	36453999	36454120	E072	-25669
chr11	36471456	36472288	E072	-7501
chr11	36472336	36472394	E072	-7395
chr11	36472479	36472548	E072	-7241
chr11	36472814	36472864	E072	-6925
chr11	36472992	36473379	E072	-6410
chr11	36473400	36473657	E072	-6132
chr11	36473699	36473787	E072	-6002
chr11	36476151	36476285	E072	-3504
chr11	36476351	36478231	E072	-1558
chr11	36481872	36482097	E072	2083
chr11	36491764	36491976	E072	11975
chr11	36492113	36492281	E072	12324
chr11	36492366	36492416	E072	12577
chr11	36499836	36499896	E072	20047
chr11	36499919	36499973	E072	20130
chr11	36500000	36500085	E072	20211
chr11	36500135	36500250	E072	20346
chr11	36521842	36522456	E072	42053
chr11	36522592	36522733	E072	42803
chr11	36522784	36522865	E072	42995
chr11	36522887	36523088	E072	43098
chr11	36523569	36523723	E072	43780
chr11	36523731	36523860	E072	43942
chr11	36524103	36524275	E072	44314
chr11	36529566	36529759	E072	49777
chr11	36429955	36431553	E073	-48236
chr11	36432428	36432508	E073	-47281
chr11	36432568	36433744	E073	-46045
chr11	36433832	36433907	E073	-45882
chr11	36441863	36441953	E073	-37836
chr11	36449570	36449710	E073	-30079
chr11	36471456	36472288	E073	-7501
chr11	36472336	36472394	E073	-7395
chr11	36472479	36472548	E073	-7241
chr11	36472621	36472756	E073	-7033
chr11	36472814	36472864	E073	-6925
chr11	36472992	36473379	E073	-6410
chr11	36473699	36473787	E073	-6002
chr11	36475038	36475215	E073	-4574
chr11	36476151	36476285	E073	-3504
chr11	36476351	36478231	E073	-1558
chr11	36500135	36500250	E073	20346
chr11	36500264	36500684	E073	20475
chr11	36523569	36523723	E073	43780
chr11	36523731	36523860	E073	43942
chr11	36529566	36529759	E073	49777
chr11	36429955	36431553	E074	-48236
chr11	36431808	36431892	E074	-47897
chr11	36431900	36432007	E074	-47782
chr11	36432017	36432061	E074	-47728
chr11	36432092	36432164	E074	-47625
chr11	36432199	36432279	E074	-47510
chr11	36432288	36432388	E074	-47401
chr11	36432428	36432508	E074	-47281
chr11	36432568	36433744	E074	-46045
chr11	36433832	36433907	E074	-45882
chr11	36434322	36434441	E074	-45348
chr11	36434480	36434813	E074	-44976
chr11	36434845	36434990	E074	-44799
chr11	36447915	36448462	E074	-31327
chr11	36448541	36448734	E074	-31055
chr11	36448766	36449026	E074	-30763
chr11	36449122	36449371	E074	-30418
chr11	36449443	36449523	E074	-30266
chr11	36449570	36449710	E074	-30079
chr11	36450055	36450133	E074	-29656
chr11	36452359	36452409	E074	-27380
chr11	36452596	36453089	E074	-26700
chr11	36453106	36453991	E074	-25798
chr11	36465262	36465489	E074	-14300
chr11	36470970	36471076	E074	-8713
chr11	36471243	36471386	E074	-8403
chr11	36471456	36472288	E074	-7501
chr11	36472336	36472394	E074	-7395
chr11	36472479	36472548	E074	-7241
chr11	36472814	36472864	E074	-6925
chr11	36472992	36473379	E074	-6410
chr11	36473400	36473657	E074	-6132
chr11	36473699	36473787	E074	-6002
chr11	36473845	36474881	E074	-4908
chr11	36475038	36475215	E074	-4574
chr11	36475229	36475571	E074	-4218
chr11	36475634	36475702	E074	-4087
chr11	36475799	36475998	E074	-3791
chr11	36476151	36476285	E074	-3504
chr11	36476351	36478231	E074	-1558
chr11	36481872	36482097	E074	2083
chr11	36491397	36491703	E074	11608
chr11	36491764	36491976	E074	11975
chr11	36492113	36492281	E074	12324
chr11	36492366	36492416	E074	12577
chr11	36500000	36500085	E074	20211
chr11	36500135	36500250	E074	20346
chr11	36500264	36500684	E074	20475
chr11	36500686	36500761	E074	20897
chr11	36513768	36513929	E074	33979
chr11	36513976	36514064	E074	34187
chr11	36520679	36521129	E074	40890
chr11	36521842	36522456	E074	42053
chr11	36522592	36522733	E074	42803
chr11	36522784	36522865	E074	42995
chr11	36522887	36523088	E074	43098
chr11	36523569	36523723	E074	43780
chr11	36523731	36523860	E074	43942
chr11	36524103	36524275	E074	44314
chr11	36524410	36524859	E074	44621
chr11	36525151	36525258	E074	45362
chr11	36471456	36472288	E081	-7501
chr11	36472336	36472394	E081	-7395
chr11	36473845	36474881	E081	-4908
chr11	36476151	36476285	E081	-3504
chr11	36476351	36478231	E081	-1558
chr11	36507022	36507131	E081	27233
chr11	36507245	36507618	E081	27456
chr11	36471456	36472288	E082	-7501
chr11	36476351	36478231	E082	-1558
chr11	36529566	36529759	E082	49777