rs2292648

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

PRR5L : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0103 (3005/29118,TOPMED)
G=0161 (2923/18072,GnomAD)
G=0130 (653/5008,1000G)
G=0147 (566/3854,ALSPAC)
G=0137 (507/3708,TWINSUK)

Position: chr11:36425819 (GRCh38.p7) (11p12)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 391 Enhancers around

Promoter: 1 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 11	NC_000011.10:g.36425819A>G
GRCh37.p13 chr 11	NC_000011.9:g.36447369A>G

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	A=0.970	G=0.030
1000Genomes	American	Sub	694	A=0.900	G=0.100
1000Genomes	East Asian	Sub	1008	A=0.823	G=0.177
1000Genomes	Europe	Sub	1006	A=0.866	G=0.134
1000Genomes	Global	Study-wide	5008	A=0.870	G=0.130
1000Genomes	South Asian	Sub	978	A=0.770	G=0.230
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.853	G=0.147
The Genome Aggregation Database	African	Sub	5172	A=0.917	G=0.083
The Genome Aggregation Database	American	Sub	412	A=0.820	G=0.180
The Genome Aggregation Database	East Asian	Sub	846	A=0.660	G=0.340
The Genome Aggregation Database	Europe	Sub	11416	A=0.817	G=0.182
The Genome Aggregation Database	Global	Study-wide	18072	A=0.838	G=0.161
The Genome Aggregation Database	Other	Sub	226	A=0.770	G=0.230
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.896	G=0.103
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.863	G=0.137

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
rs2292648	0.0000925	alcoholism	pha002892
rs2292648	0.000093	alcohol dependence	20201924

eQTL of rs2292648 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

meQTL of rs2292648 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	36400276	36400326	E067	-47043
chr11	36400570	36400663	E067	-46706
chr11	36401668	36401788	E067	-45581
chr11	36401825	36401895	E067	-45474
chr11	36404019	36404230	E067	-43139
chr11	36404253	36404317	E067	-43052
chr11	36404594	36404663	E067	-42706
chr11	36404723	36404773	E067	-42596
chr11	36406581	36407340	E067	-40029
chr11	36407376	36407458	E067	-39911
chr11	36412340	36413074	E067	-34295
chr11	36420213	36420295	E067	-27074
chr11	36420305	36420366	E067	-27003
chr11	36420760	36421085	E067	-26284
chr11	36421116	36421236	E067	-26133
chr11	36425085	36425583	E067	-21786
chr11	36432568	36433744	E067	-13625
chr11	36433832	36433907	E067	-13462
chr11	36434322	36434441	E067	-12928
chr11	36448541	36448734	E067	1172
chr11	36448766	36449026	E067	1397
chr11	36449122	36449371	E067	1753
chr11	36449443	36449523	E067	2074
chr11	36449570	36449710	E067	2201
chr11	36450055	36450133	E067	2686
chr11	36452359	36452409	E067	4990
chr11	36452596	36453089	E067	5227
chr11	36464360	36464422	E067	16991
chr11	36471456	36472288	E067	24087
chr11	36472336	36472394	E067	24967
chr11	36472479	36472548	E067	25110
chr11	36472621	36472756	E067	25252
chr11	36472814	36472864	E067	25445
chr11	36472992	36473379	E067	25623
chr11	36473400	36473657	E067	26031
chr11	36473699	36473787	E067	26330
chr11	36473845	36474881	E067	26476
chr11	36475038	36475215	E067	27669
chr11	36475229	36475571	E067	27860
chr11	36476351	36478231	E067	28982
chr11	36491764	36491976	E067	44395
chr11	36492113	36492281	E067	44744
chr11	36492366	36492416	E067	44997
chr11	36400276	36400326	E068	-47043
chr11	36400570	36400663	E068	-46706
chr11	36403161	36403253	E068	-44116
chr11	36404019	36404230	E068	-43139
chr11	36404253	36404317	E068	-43052
chr11	36409132	36409497	E068	-37872
chr11	36409563	36409658	E068	-37711
chr11	36411971	36412117	E068	-35252
chr11	36412340	36413074	E068	-34295
chr11	36418780	36418830	E068	-28539
chr11	36418892	36418996	E068	-28373
chr11	36419652	36419789	E068	-27580
chr11	36419838	36419969	E068	-27400
chr11	36420760	36421085	E068	-26284
chr11	36421116	36421236	E068	-26133
chr11	36421248	36422035	E068	-25334
chr11	36432568	36433744	E068	-13625
chr11	36434480	36434813	E068	-12556
chr11	36434845	36434990	E068	-12379
chr11	36447915	36448462	E068	546
chr11	36448541	36448734	E068	1172
chr11	36449443	36449523	E068	2074
chr11	36449570	36449710	E068	2201
chr11	36450055	36450133	E068	2686
chr11	36470970	36471076	E068	23601
chr11	36471243	36471386	E068	23874
chr11	36471456	36472288	E068	24087
chr11	36472336	36472394	E068	24967
chr11	36472479	36472548	E068	25110
chr11	36472621	36472756	E068	25252
chr11	36472814	36472864	E068	25445
chr11	36472992	36473379	E068	25623
chr11	36473400	36473657	E068	26031
chr11	36473699	36473787	E068	26330
chr11	36476151	36476285	E068	28782
chr11	36476351	36478231	E068	28982
chr11	36491764	36491976	E068	44395
chr11	36492113	36492281	E068	44744
chr11	36492366	36492416	E068	44997
chr11	36492488	36492561	E068	45119
chr11	36401668	36401788	E069	-45581
chr11	36401825	36401895	E069	-45474
chr11	36402006	36402068	E069	-45301
chr11	36402965	36403015	E069	-44354
chr11	36403071	36403125	E069	-44244
chr11	36403161	36403253	E069	-44116
chr11	36404019	36404230	E069	-43139
chr11	36404253	36404317	E069	-43052
chr11	36404594	36404663	E069	-42706
chr11	36404723	36404773	E069	-42596
chr11	36404876	36405002	E069	-42367
chr11	36406581	36407340	E069	-40029
chr11	36407376	36407458	E069	-39911
chr11	36411725	36411833	E069	-35536
chr11	36411971	36412117	E069	-35252
chr11	36412340	36413074	E069	-34295
chr11	36418892	36418996	E069	-28373
chr11	36419652	36419789	E069	-27580
chr11	36420037	36420189	E069	-27180
chr11	36420528	36420600	E069	-26769
chr11	36420760	36421085	E069	-26284
chr11	36421116	36421236	E069	-26133
chr11	36432428	36432508	E069	-14861
chr11	36432568	36433744	E069	-13625
chr11	36433832	36433907	E069	-13462
chr11	36434322	36434441	E069	-12928
chr11	36434480	36434813	E069	-12556
chr11	36434845	36434990	E069	-12379
chr11	36448541	36448734	E069	1172
chr11	36448766	36449026	E069	1397
chr11	36449122	36449371	E069	1753
chr11	36449443	36449523	E069	2074
chr11	36449570	36449710	E069	2201
chr11	36450055	36450133	E069	2686
chr11	36452359	36452409	E069	4990
chr11	36452596	36453089	E069	5227
chr11	36453106	36453991	E069	5737
chr11	36453999	36454120	E069	6630
chr11	36457439	36457506	E069	10070
chr11	36457763	36457905	E069	10394
chr11	36457912	36457960	E069	10543
chr11	36458108	36458165	E069	10739
chr11	36470444	36470494	E069	23075
chr11	36470530	36470616	E069	23161
chr11	36470970	36471076	E069	23601
chr11	36471243	36471386	E069	23874
chr11	36471456	36472288	E069	24087
chr11	36472336	36472394	E069	24967
chr11	36472479	36472548	E069	25110
chr11	36472621	36472756	E069	25252
chr11	36472814	36472864	E069	25445
chr11	36472992	36473379	E069	25623
chr11	36473400	36473657	E069	26031
chr11	36473699	36473787	E069	26330
chr11	36473845	36474881	E069	26476
chr11	36475038	36475215	E069	27669
chr11	36476351	36478231	E069	28982
chr11	36491764	36491976	E069	44395
chr11	36492113	36492281	E069	44744
chr11	36492366	36492416	E069	44997
chr11	36400276	36400326	E071	-47043
chr11	36400570	36400663	E071	-46706
chr11	36403161	36403253	E071	-44116
chr11	36404019	36404230	E071	-43139
chr11	36404253	36404317	E071	-43052
chr11	36404594	36404663	E071	-42706
chr11	36404723	36404773	E071	-42596
chr11	36404876	36405002	E071	-42367
chr11	36406581	36407340	E071	-40029
chr11	36407376	36407458	E071	-39911
chr11	36409563	36409658	E071	-37711
chr11	36409732	36410018	E071	-37351
chr11	36410059	36410174	E071	-37195
chr11	36411725	36411833	E071	-35536
chr11	36411971	36412117	E071	-35252
chr11	36412340	36413074	E071	-34295
chr11	36419652	36419789	E071	-27580
chr11	36420528	36420600	E071	-26769
chr11	36420760	36421085	E071	-26284
chr11	36421116	36421236	E071	-26133
chr11	36423510	36423606	E071	-23763
chr11	36424275	36424630	E071	-22739
chr11	36425085	36425583	E071	-21786
chr11	36427188	36427389	E071	-19980
chr11	36427434	36427474	E071	-19895
chr11	36427737	36427789	E071	-19580
chr11	36428041	36428107	E071	-19262
chr11	36428121	36428182	E071	-19187
chr11	36429955	36431553	E071	-15816
chr11	36432199	36432279	E071	-15090
chr11	36432288	36432388	E071	-14981
chr11	36432428	36432508	E071	-14861
chr11	36432568	36433744	E071	-13625
chr11	36433832	36433907	E071	-13462
chr11	36434322	36434441	E071	-12928
chr11	36434480	36434813	E071	-12556
chr11	36434845	36434990	E071	-12379
chr11	36437789	36437907	E071	-9462
chr11	36437946	36438014	E071	-9355
chr11	36438072	36438153	E071	-9216
chr11	36438190	36438240	E071	-9129
chr11	36438244	36438366	E071	-9003
chr11	36441863	36441953	E071	-5416
chr11	36442112	36443087	E071	-4282
chr11	36447140	36447844	E071	0
chr11	36447915	36448462	E071	546
chr11	36448541	36448734	E071	1172
chr11	36448766	36449026	E071	1397
chr11	36449122	36449371	E071	1753
chr11	36449443	36449523	E071	2074
chr11	36449570	36449710	E071	2201
chr11	36452359	36452409	E071	4990
chr11	36452596	36453089	E071	5227
chr11	36453106	36453991	E071	5737
chr11	36453999	36454120	E071	6630
chr11	36457763	36457905	E071	10394
chr11	36457912	36457960	E071	10543
chr11	36458108	36458165	E071	10739
chr11	36465262	36465489	E071	17893
chr11	36470970	36471076	E071	23601
chr11	36471243	36471386	E071	23874
chr11	36472336	36472394	E071	24967
chr11	36472479	36472548	E071	25110
chr11	36472621	36472756	E071	25252
chr11	36472814	36472864	E071	25445
chr11	36472992	36473379	E071	25623
chr11	36473400	36473657	E071	26031
chr11	36473699	36473787	E071	26330
chr11	36473845	36474881	E071	26476
chr11	36475038	36475215	E071	27669
chr11	36475229	36475571	E071	27860
chr11	36475634	36475702	E071	28265
chr11	36475799	36475998	E071	28430
chr11	36476151	36476285	E071	28782
chr11	36476351	36478231	E071	28982
chr11	36479318	36479387	E071	31949
chr11	36482287	36482337	E071	34918
chr11	36491397	36491703	E071	44028
chr11	36491764	36491976	E071	44395
chr11	36492113	36492281	E071	44744
chr11	36492366	36492416	E071	44997
chr11	36400276	36400326	E072	-47043
chr11	36400570	36400663	E072	-46706
chr11	36404019	36404230	E072	-43139
chr11	36404253	36404317	E072	-43052
chr11	36404594	36404663	E072	-42706
chr11	36404723	36404773	E072	-42596
chr11	36404876	36405002	E072	-42367
chr11	36406581	36407340	E072	-40029
chr11	36407376	36407458	E072	-39911
chr11	36407949	36407999	E072	-39370
chr11	36408112	36408237	E072	-39132
chr11	36409132	36409497	E072	-37872
chr11	36411971	36412117	E072	-35252
chr11	36412340	36413074	E072	-34295
chr11	36419652	36419789	E072	-27580
chr11	36419838	36419969	E072	-27400
chr11	36420760	36421085	E072	-26284
chr11	36421116	36421236	E072	-26133
chr11	36427434	36427474	E072	-19895
chr11	36427737	36427789	E072	-19580
chr11	36428041	36428107	E072	-19262
chr11	36428121	36428182	E072	-19187
chr11	36432017	36432061	E072	-15308
chr11	36432092	36432164	E072	-15205
chr11	36432199	36432279	E072	-15090
chr11	36432288	36432388	E072	-14981
chr11	36432428	36432508	E072	-14861
chr11	36432568	36433744	E072	-13625
chr11	36433832	36433907	E072	-13462
chr11	36434480	36434813	E072	-12556
chr11	36434845	36434990	E072	-12379
chr11	36438072	36438153	E072	-9216
chr11	36449443	36449523	E072	2074
chr11	36449570	36449710	E072	2201
chr11	36452359	36452409	E072	4990
chr11	36452596	36453089	E072	5227
chr11	36453999	36454120	E072	6630
chr11	36471456	36472288	E072	24087
chr11	36472336	36472394	E072	24967
chr11	36472479	36472548	E072	25110
chr11	36472814	36472864	E072	25445
chr11	36472992	36473379	E072	25623
chr11	36473400	36473657	E072	26031
chr11	36473699	36473787	E072	26330
chr11	36476151	36476285	E072	28782
chr11	36476351	36478231	E072	28982
chr11	36481872	36482097	E072	34503
chr11	36491764	36491976	E072	44395
chr11	36492113	36492281	E072	44744
chr11	36492366	36492416	E072	44997
chr11	36404019	36404230	E073	-43139
chr11	36404253	36404317	E073	-43052
chr11	36409732	36410018	E073	-37351
chr11	36410059	36410174	E073	-37195
chr11	36412340	36413074	E073	-34295
chr11	36419838	36419969	E073	-27400
chr11	36420037	36420189	E073	-27180
chr11	36420213	36420295	E073	-27074
chr11	36420305	36420366	E073	-27003
chr11	36420528	36420600	E073	-26769
chr11	36427737	36427789	E073	-19580
chr11	36428041	36428107	E073	-19262
chr11	36428121	36428182	E073	-19187
chr11	36428433	36428512	E073	-18857
chr11	36428649	36428733	E073	-18636
chr11	36429955	36431553	E073	-15816
chr11	36432428	36432508	E073	-14861
chr11	36432568	36433744	E073	-13625
chr11	36433832	36433907	E073	-13462
chr11	36441863	36441953	E073	-5416
chr11	36449570	36449710	E073	2201
chr11	36471456	36472288	E073	24087
chr11	36472336	36472394	E073	24967
chr11	36472479	36472548	E073	25110
chr11	36472621	36472756	E073	25252
chr11	36472814	36472864	E073	25445
chr11	36472992	36473379	E073	25623
chr11	36473699	36473787	E073	26330
chr11	36475038	36475215	E073	27669
chr11	36476151	36476285	E073	28782
chr11	36476351	36478231	E073	28982
chr11	36400276	36400326	E074	-47043
chr11	36400570	36400663	E074	-46706
chr11	36401668	36401788	E074	-45581
chr11	36401825	36401895	E074	-45474
chr11	36402006	36402068	E074	-45301
chr11	36404019	36404230	E074	-43139
chr11	36404253	36404317	E074	-43052
chr11	36404594	36404663	E074	-42706
chr11	36404723	36404773	E074	-42596
chr11	36404876	36405002	E074	-42367
chr11	36406581	36407340	E074	-40029
chr11	36407376	36407458	E074	-39911
chr11	36409563	36409658	E074	-37711
chr11	36409732	36410018	E074	-37351
chr11	36410059	36410174	E074	-37195
chr11	36411461	36411594	E074	-35775
chr11	36411725	36411833	E074	-35536
chr11	36411971	36412117	E074	-35252
chr11	36412340	36413074	E074	-34295
chr11	36413756	36413840	E074	-33529
chr11	36414371	36414443	E074	-32926
chr11	36415714	36415901	E074	-31468
chr11	36418205	36418263	E074	-29106
chr11	36418780	36418830	E074	-28539
chr11	36418892	36418996	E074	-28373
chr11	36419652	36419789	E074	-27580
chr11	36419838	36419969	E074	-27400
chr11	36420528	36420600	E074	-26769
chr11	36420760	36421085	E074	-26284
chr11	36421116	36421236	E074	-26133
chr11	36421248	36422035	E074	-25334
chr11	36425085	36425583	E074	-21786
chr11	36427188	36427389	E074	-19980
chr11	36427434	36427474	E074	-19895
chr11	36429955	36431553	E074	-15816
chr11	36431808	36431892	E074	-15477
chr11	36431900	36432007	E074	-15362
chr11	36432017	36432061	E074	-15308
chr11	36432092	36432164	E074	-15205
chr11	36432199	36432279	E074	-15090
chr11	36432288	36432388	E074	-14981
chr11	36432428	36432508	E074	-14861
chr11	36432568	36433744	E074	-13625
chr11	36433832	36433907	E074	-13462
chr11	36434322	36434441	E074	-12928
chr11	36434480	36434813	E074	-12556
chr11	36434845	36434990	E074	-12379
chr11	36447915	36448462	E074	546
chr11	36448541	36448734	E074	1172
chr11	36448766	36449026	E074	1397
chr11	36449122	36449371	E074	1753
chr11	36449443	36449523	E074	2074
chr11	36449570	36449710	E074	2201
chr11	36450055	36450133	E074	2686
chr11	36452359	36452409	E074	4990
chr11	36452596	36453089	E074	5227
chr11	36453106	36453991	E074	5737
chr11	36465262	36465489	E074	17893
chr11	36470970	36471076	E074	23601
chr11	36471243	36471386	E074	23874
chr11	36471456	36472288	E074	24087
chr11	36472336	36472394	E074	24967
chr11	36472479	36472548	E074	25110
chr11	36472814	36472864	E074	25445
chr11	36472992	36473379	E074	25623
chr11	36473400	36473657	E074	26031
chr11	36473699	36473787	E074	26330
chr11	36473845	36474881	E074	26476
chr11	36475038	36475215	E074	27669
chr11	36475229	36475571	E074	27860
chr11	36475634	36475702	E074	28265
chr11	36475799	36475998	E074	28430
chr11	36476151	36476285	E074	28782
chr11	36476351	36478231	E074	28982
chr11	36481872	36482097	E074	34503
chr11	36491397	36491703	E074	44028
chr11	36491764	36491976	E074	44395
chr11	36492113	36492281	E074	44744
chr11	36492366	36492416	E074	44997
chr11	36471456	36472288	E081	24087
chr11	36472336	36472394	E081	24967
chr11	36473845	36474881	E081	26476
chr11	36476151	36476285	E081	28782
chr11	36476351	36478231	E081	28982
chr11	36471456	36472288	E082	24087
chr11	36476351	36478231	E082	28982

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr11	36400113	36400178	E071	-47191