rs10849182

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0163 (4884/29964,GnomAD)
A=0147 (4285/29118,TOPMED)
A=0123 (614/5008,1000G)
A=0184 (709/3854,ALSPAC)
A=0193 (714/3708,TWINSUK)

Position: chr12:4965172 (GRCh38.p7) (12p13.32)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 150 Enhancers around

Promoter: 9 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.4965172G>A
GRCh37.p13 chr 12	NC_000012.11:g.5074338G>A

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.845	A=0.155
1000Genomes	American	Sub	694	G=0.910	A=0.090
1000Genomes	East Asian	Sub	1008	G=0.931	A=0.069
1000Genomes	Europe	Sub	1006	G=0.838	A=0.162
1000Genomes	Global	Study-wide	5008	G=0.877	A=0.123
1000Genomes	South Asian	Sub	978	G=0.880	A=0.120
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.816	A=0.184
The Genome Aggregation Database	African	Sub	8720	G=0.843	A=0.157
The Genome Aggregation Database	American	Sub	838	G=0.930	A=0.070
The Genome Aggregation Database	East Asian	Sub	1622	G=0.940	A=0.060
The Genome Aggregation Database	Europe	Sub	18482	G=0.819	A=0.180
The Genome Aggregation Database	Global	Study-wide	29964	G=0.837	A=0.163
The Genome Aggregation Database	Other	Sub	302	G=0.910	A=0.090
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.852	A=0.147
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.807	A=0.193

PMID	Title	Author	Journal
21314694	Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.	Kendler KS	Alcohol Clin Exp Res

P-Value

SNP ID	p-value	Traits	Study
rs10849182	0.000933	alcohol dependence	21314694

eQTL of rs10849182 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 rs10849182 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 )
chr12	5069540	5070047	E067	-4291
chr12	5070158	5070269	E067	-4069
chr12	5106972	5107503	E067	32634
chr12	5107552	5107645	E067	33214
chr12	5119392	5119672	E067	45054
chr12	5119745	5119795	E067	45407
chr12	5121359	5121446	E067	47021
chr12	5121506	5121556	E067	47168
chr12	5121602	5121794	E067	47264
chr12	5121941	5122014	E067	47603
chr12	5122121	5122195	E067	47783
chr12	5122384	5122442	E067	48046
chr12	5122487	5122706	E067	48149
chr12	5122783	5122884	E067	48445
chr12	5123283	5123352	E067	48945
chr12	5069540	5070047	E068	-4291
chr12	5070158	5070269	E068	-4069
chr12	5070462	5070608	E068	-3730
chr12	5094217	5094283	E068	19879
chr12	5094323	5094473	E068	19985
chr12	5094504	5094558	E068	20166
chr12	5100532	5100622	E068	26194
chr12	5100691	5100858	E068	26353
chr12	5100912	5101036	E068	26574
chr12	5106609	5106659	E068	32271
chr12	5106972	5107503	E068	32634
chr12	5121359	5121446	E068	47021
chr12	5121506	5121556	E068	47168
chr12	5121602	5121794	E068	47264
chr12	5121941	5122014	E068	47603
chr12	5122121	5122195	E068	47783
chr12	5122384	5122442	E068	48046
chr12	5122487	5122706	E068	48149
chr12	5122783	5122884	E068	48445
chr12	5119203	5119353	E069	44865
chr12	5119392	5119672	E069	45054
chr12	5119745	5119795	E069	45407
chr12	5121359	5121446	E069	47021
chr12	5121506	5121556	E069	47168
chr12	5121602	5121794	E069	47264
chr12	5121941	5122014	E069	47603
chr12	5122121	5122195	E069	47783
chr12	5122384	5122442	E069	48046
chr12	5122487	5122706	E069	48149
chr12	5122783	5122884	E069	48445
chr12	5123283	5123352	E069	48945
chr12	5123487	5123703	E069	49149
chr12	5121359	5121446	E070	47021
chr12	5121506	5121556	E070	47168
chr12	5121602	5121794	E070	47264
chr12	5121941	5122014	E070	47603
chr12	5122121	5122195	E070	47783
chr12	5122384	5122442	E070	48046
chr12	5122487	5122706	E070	48149
chr12	5122783	5122884	E070	48445
chr12	5119203	5119353	E071	44865
chr12	5119392	5119672	E071	45054
chr12	5120670	5120724	E071	46332
chr12	5121359	5121446	E071	47021
chr12	5121506	5121556	E071	47168
chr12	5121602	5121794	E071	47264
chr12	5121941	5122014	E071	47603
chr12	5122121	5122195	E071	47783
chr12	5122384	5122442	E071	48046
chr12	5122487	5122706	E071	48149
chr12	5122783	5122884	E071	48445
chr12	5123283	5123352	E071	48945
chr12	5123487	5123703	E071	49149
chr12	5112097	5112643	E072	37759
chr12	5119203	5119353	E072	44865
chr12	5119392	5119672	E072	45054
chr12	5121359	5121446	E072	47021
chr12	5121506	5121556	E072	47168
chr12	5121602	5121794	E072	47264
chr12	5121941	5122014	E072	47603
chr12	5122121	5122195	E072	47783
chr12	5122384	5122442	E072	48046
chr12	5122487	5122706	E072	48149
chr12	5122783	5122884	E072	48445
chr12	5123283	5123352	E072	48945
chr12	5123487	5123703	E072	49149
chr12	5107552	5107645	E073	33214
chr12	5107773	5107823	E073	33435
chr12	5111727	5111971	E073	37389
chr12	5112097	5112643	E073	37759
chr12	5121359	5121446	E073	47021
chr12	5121506	5121556	E073	47168
chr12	5123283	5123352	E073	48945
chr12	5119203	5119353	E074	44865
chr12	5119392	5119672	E074	45054
chr12	5121359	5121446	E074	47021
chr12	5121506	5121556	E074	47168
chr12	5121602	5121794	E074	47264
chr12	5121941	5122014	E074	47603
chr12	5122121	5122195	E074	47783
chr12	5122384	5122442	E074	48046
chr12	5122487	5122706	E074	48149
chr12	5122783	5122884	E074	48445
chr12	5123283	5123352	E074	48945
chr12	5040320	5040562	E081	-33776
chr12	5041009	5041186	E081	-33152
chr12	5041213	5041393	E081	-32945
chr12	5041449	5041499	E081	-32839
chr12	5063274	5063379	E081	-10959
chr12	5063473	5063558	E081	-10780
chr12	5063594	5063687	E081	-10651
chr12	5064257	5064351	E081	-9987
chr12	5064796	5064870	E081	-9468
chr12	5064922	5064972	E081	-9366
chr12	5065000	5065050	E081	-9288
chr12	5065247	5065616	E081	-8722
chr12	5066054	5066104	E081	-8234
chr12	5066151	5066401	E081	-7937
chr12	5066629	5066679	E081	-7659
chr12	5066881	5066977	E081	-7361
chr12	5067022	5067260	E081	-7078
chr12	5069540	5070047	E081	-4291
chr12	5070158	5070269	E081	-4069
chr12	5070462	5070608	E081	-3730
chr12	5070616	5070747	E081	-3591
chr12	5070877	5070937	E081	-3401
chr12	5084200	5084261	E081	9862
chr12	5084499	5084650	E081	10161
chr12	5084808	5085059	E081	10470
chr12	5085157	5085207	E081	10819
chr12	5086466	5086554	E081	12128
chr12	5086965	5087015	E081	12627
chr12	5087763	5087905	E081	13425
chr12	5087906	5088308	E081	13568
chr12	5088458	5088711	E081	14120
chr12	5100532	5100622	E081	26194
chr12	5100691	5100858	E081	26353
chr12	5100912	5101036	E081	26574
chr12	5101140	5101194	E081	26802
chr12	5101394	5101500	E081	27056
chr12	5101601	5101787	E081	27263
chr12	5101845	5101979	E081	27507
chr12	5102156	5102312	E081	27818
chr12	5041009	5041186	E082	-33152
chr12	5041213	5041393	E082	-32945
chr12	5041449	5041499	E082	-32839
chr12	5068119	5068294	E082	-6044
chr12	5068393	5068495	E082	-5843
chr12	5083493	5083612	E082	9155
chr12	5087763	5087905	E082	13425
chr12	5087906	5088308	E082	13568
chr12	5088458	5088711	E082	14120
chr12	5101394	5101500	E082	27056
chr12	5101601	5101787	E082	27263
chr12	5101845	5101979	E082	27507

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr12	5068980	5069199	E067	-5139
chr12	5069372	5069504	E067	-4834
chr12	5068980	5069199	E068	-5139
chr12	5069372	5069504	E068	-4834
chr12	5068980	5069199	E072	-5139
chr12	5069372	5069504	E072	-4834
chr12	5069372	5069504	E073	-4834
chr12	5068980	5069199	E074	-5139
chr12	5069372	5069504	E074	-4834