rs10497422

Organism: Homo sapiens

Alleles: G>T

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0092 (2767/29976,GnomAD)
T=0120 (3511/29118,TOPMED)
T=0095 (477/5008,1000G)
T=0055 (211/3854,ALSPAC)
T=0052 (194/3708,TWINSUK)

Position: chr2:173988057 (GRCh38.p7) (2q31.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 189 Enhancers around

Promoter: 17 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.173988057G>T
GRCh37.p13 chr 2	NC_000002.11:g.174852785G>T

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.846	T=0.154
1000Genomes	American	Sub	694	G=0.910	T=0.090
1000Genomes	East Asian	Sub	1008	G=0.963	T=0.037
1000Genomes	Europe	Sub	1006	G=0.928	T=0.072
1000Genomes	Global	Study-wide	5008	G=0.905	T=0.095
1000Genomes	South Asian	Sub	978	G=0.900	T=0.100
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.945	T=0.055
The Genome Aggregation Database	African	Sub	8712	G=0.841	T=0.159
The Genome Aggregation Database	American	Sub	838	G=0.930	T=0.070
The Genome Aggregation Database	East Asian	Sub	1620	G=0.975	T=0.025
The Genome Aggregation Database	Europe	Sub	18504	G=0.931	T=0.068
The Genome Aggregation Database	Global	Study-wide	29976	G=0.907	T=0.092
The Genome Aggregation Database	Other	Sub	302	G=0.960	T=0.040
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.879	T=0.120
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.948	T=0.052

PMID	Title	Author	Journal
19581569	Genome-wide association study of alcohol dependence.	Treutlein J	Arch Gen Psychiatry

P-Value

SNP ID	p-value	Traits	Study
rs10497422	1.58E-05	alcohol dependence	19581569

eQTL of rs10497422 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 rs10497422 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 )
chr2	174803416	174803530	E067	-49255
chr2	174803576	174803654	E067	-49131
chr2	174803875	174803959	E067	-48826
chr2	174817123	174817273	E067	-35512
chr2	174817284	174817344	E067	-35441
chr2	174817939	174817999	E067	-34786
chr2	174821712	174821772	E067	-31013
chr2	174821870	174821933	E067	-30852
chr2	174821962	174822053	E067	-30732
chr2	174822079	174822131	E067	-30654
chr2	174822180	174822652	E067	-30133
chr2	174823094	174823169	E067	-29616
chr2	174824364	174824422	E067	-28363
chr2	174847029	174847342	E067	-5443
chr2	174847586	174848591	E067	-4194
chr2	174848713	174848763	E067	-4022
chr2	174848766	174848816	E067	-3969
chr2	174855559	174856912	E067	2774
chr2	174864098	174864294	E067	11313
chr2	174803576	174803654	E068	-49131
chr2	174803875	174803959	E068	-48826
chr2	174804586	174804879	E068	-47906
chr2	174805087	174805166	E068	-47619
chr2	174805492	174805633	E068	-47152
chr2	174805922	174806092	E068	-46693
chr2	174816928	174816995	E068	-35790
chr2	174817123	174817273	E068	-35512
chr2	174817284	174817344	E068	-35441
chr2	174817939	174817999	E068	-34786
chr2	174847586	174848591	E068	-4194
chr2	174848713	174848763	E068	-4022
chr2	174848766	174848816	E068	-3969
chr2	174851290	174852003	E068	-782
chr2	174854048	174855506	E068	1263
chr2	174855559	174856912	E068	2774
chr2	174861783	174861857	E068	8998
chr2	174861993	174862515	E068	9208
chr2	174862588	174862990	E068	9803
chr2	174864098	174864294	E068	11313
chr2	174864370	174864442	E068	11585
chr2	174879041	174879117	E068	26256
chr2	174879152	174879706	E068	26367
chr2	174803576	174803654	E069	-49131
chr2	174803875	174803959	E069	-48826
chr2	174804586	174804879	E069	-47906
chr2	174805087	174805166	E069	-47619
chr2	174805492	174805633	E069	-47152
chr2	174805922	174806092	E069	-46693
chr2	174806209	174806278	E069	-46507
chr2	174806382	174806643	E069	-46142
chr2	174806709	174806768	E069	-46017
chr2	174816928	174816995	E069	-35790
chr2	174817123	174817273	E069	-35512
chr2	174817284	174817344	E069	-35441
chr2	174817939	174817999	E069	-34786
chr2	174847029	174847342	E069	-5443
chr2	174847586	174848591	E069	-4194
chr2	174848713	174848763	E069	-4022
chr2	174848766	174848816	E069	-3969
chr2	174854048	174855506	E069	1263
chr2	174855559	174856912	E069	2774
chr2	174861173	174861375	E069	8388
chr2	174861487	174861547	E069	8702
chr2	174861630	174861714	E069	8845
chr2	174861783	174861857	E069	8998
chr2	174861993	174862515	E069	9208
chr2	174862588	174862990	E069	9803
chr2	174864098	174864294	E069	11313
chr2	174864370	174864442	E069	11585
chr2	174900712	174901868	E069	47927
chr2	174803576	174803654	E070	-49131
chr2	174803875	174803959	E070	-48826
chr2	174805492	174805633	E070	-47152
chr2	174806209	174806278	E070	-46507
chr2	174811087	174811156	E070	-41629
chr2	174822180	174822652	E070	-30133
chr2	174847029	174847342	E070	-5443
chr2	174847586	174848591	E070	-4194
chr2	174849957	174850606	E070	-2179
chr2	174853646	174853734	E070	861
chr2	174854048	174855506	E070	1263
chr2	174857047	174857155	E070	4262
chr2	174862588	174862990	E070	9803
chr2	174879152	174879706	E070	26367
chr2	174879718	174879779	E070	26933
chr2	174888245	174891715	E070	35460
chr2	174806209	174806278	E071	-46507
chr2	174806382	174806643	E071	-46142
chr2	174806709	174806768	E071	-46017
chr2	174812441	174812481	E071	-40304
chr2	174813741	174813827	E071	-38958
chr2	174817939	174817999	E071	-34786
chr2	174821712	174821772	E071	-31013
chr2	174821870	174821933	E071	-30852
chr2	174821962	174822053	E071	-30732
chr2	174847029	174847342	E071	-5443
chr2	174847586	174848591	E071	-4194
chr2	174848713	174848763	E071	-4022
chr2	174848766	174848816	E071	-3969
chr2	174848858	174848945	E071	-3840
chr2	174851290	174852003	E071	-782
chr2	174857047	174857155	E071	4262
chr2	174862588	174862990	E071	9803
chr2	174863161	174863393	E071	10376
chr2	174863440	174863548	E071	10655
chr2	174864098	174864294	E071	11313
chr2	174864370	174864442	E071	11585
chr2	174879041	174879117	E071	26256
chr2	174879152	174879706	E071	26367
chr2	174888245	174891715	E071	35460
chr2	174900712	174901868	E071	47927
chr2	174902025	174902136	E071	49240
chr2	174902375	174902499	E071	49590
chr2	174803416	174803530	E072	-49255
chr2	174803576	174803654	E072	-49131
chr2	174805492	174805633	E072	-47152
chr2	174821712	174821772	E072	-31013
chr2	174822180	174822652	E072	-30133
chr2	174847586	174848591	E072	-4194
chr2	174848713	174848763	E072	-4022
chr2	174848766	174848816	E072	-3969
chr2	174854048	174855506	E072	1263
chr2	174855559	174856912	E072	2774
chr2	174803416	174803530	E073	-49255
chr2	174805922	174806092	E073	-46693
chr2	174806209	174806278	E073	-46507
chr2	174806382	174806643	E073	-46142
chr2	174806709	174806768	E073	-46017
chr2	174807220	174807274	E073	-45511
chr2	174817123	174817273	E073	-35512
chr2	174817284	174817344	E073	-35441
chr2	174822079	174822131	E073	-30654
chr2	174822180	174822652	E073	-30133
chr2	174847586	174848591	E073	-4194
chr2	174849957	174850606	E073	-2179
chr2	174850694	174850745	E073	-2040
chr2	174851290	174852003	E073	-782
chr2	174854048	174855506	E073	1263
chr2	174855559	174856912	E073	2774
chr2	174857047	174857155	E073	4262
chr2	174805087	174805166	E074	-47619
chr2	174805492	174805633	E074	-47152
chr2	174805922	174806092	E074	-46693
chr2	174806209	174806278	E074	-46507
chr2	174806382	174806643	E074	-46142
chr2	174806709	174806768	E074	-46017
chr2	174813741	174813827	E074	-38958
chr2	174817123	174817273	E074	-35512
chr2	174817284	174817344	E074	-35441
chr2	174817939	174817999	E074	-34786
chr2	174821870	174821933	E074	-30852
chr2	174821962	174822053	E074	-30732
chr2	174822079	174822131	E074	-30654
chr2	174826251	174826354	E074	-26431
chr2	174847586	174848591	E074	-4194
chr2	174848713	174848763	E074	-4022
chr2	174848766	174848816	E074	-3969
chr2	174855559	174856912	E074	2774
chr2	174863161	174863393	E074	10376
chr2	174863440	174863548	E074	10655
chr2	174864098	174864294	E074	11313
chr2	174876843	174876984	E074	24058
chr2	174888245	174891715	E074	35460
chr2	174897406	174897534	E074	44621
chr2	174803416	174803530	E081	-49255
chr2	174803576	174803654	E081	-49131
chr2	174805087	174805166	E081	-47619
chr2	174847586	174848591	E081	-4194
chr2	174848713	174848763	E081	-4022
chr2	174848766	174848816	E081	-3969
chr2	174849957	174850606	E081	-2179
chr2	174855559	174856912	E081	2774
chr2	174864098	174864294	E081	11313
chr2	174803416	174803530	E082	-49255
chr2	174803576	174803654	E082	-49131
chr2	174805087	174805166	E082	-47619
chr2	174816928	174816995	E082	-35790
chr2	174817123	174817273	E082	-35512
chr2	174821712	174821772	E082	-31013
chr2	174821870	174821933	E082	-30852
chr2	174821962	174822053	E082	-30732
chr2	174822079	174822131	E082	-30654
chr2	174822180	174822652	E082	-30133
chr2	174847029	174847342	E082	-5443
chr2	174847586	174848591	E082	-4194
chr2	174855559	174856912	E082	2774
chr2	174861993	174862515	E082	9208
chr2	174862588	174862990	E082	9803
chr2	174864098	174864294	E082	11313

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr2	174827068	174827180	E067	-25605
chr2	174827464	174831891	E067	-20894
chr2	174827068	174827180	E068	-25605
chr2	174827464	174831891	E068	-20894
chr2	174827464	174831891	E069	-20894
chr2	174826553	174826626	E070	-26159
chr2	174827068	174827180	E070	-25605
chr2	174827464	174831891	E070	-20894
chr2	174827068	174827180	E071	-25605
chr2	174827464	174831891	E071	-20894
chr2	174827464	174831891	E072	-20894
chr2	174827464	174831891	E073	-20894
chr2	174827464	174831891	E074	-20894
chr2	174827068	174827180	E081	-25605
chr2	174827464	174831891	E081	-20894
chr2	174827068	174827180	E082	-25605
chr2	174827464	174831891	E082	-20894