rs703717

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0180 (5401/29962,GnomAD)
A==0182 (5325/29118,TOPMED)
A==0215 (1076/5008,1000G)
A==0194 (747/3854,ALSPAC)
A==0201 (745/3708,TWINSUK)

Position: chr12:101272239 (GRCh38.p7) (12q23.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 13 Enhancers around

Promoter: 69 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.101272239A>G
GRCh37.p13 chr 12	NC_000012.11:g.101666017A>G

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.098	G=0.902
1000Genomes	American	Sub	694	A=0.260	G=0.740
1000Genomes	East Asian	Sub	1008	A=0.353	G=0.647
1000Genomes	Europe	Sub	1006	A=0.206	G=0.794
1000Genomes	Global	Study-wide	5008	A=0.215	G=0.785
1000Genomes	South Asian	Sub	978	A=0.210	G=0.790
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.194	G=0.806
The Genome Aggregation Database	African	Sub	8728	A=0.113	G=0.887
The Genome Aggregation Database	American	Sub	838	A=0.270	G=0.730
The Genome Aggregation Database	East Asian	Sub	1620	A=0.350	G=0.650
The Genome Aggregation Database	Europe	Sub	18474	A=0.191	G=0.808
The Genome Aggregation Database	Global	Study-wide	29962	A=0.180	G=0.819
The Genome Aggregation Database	Other	Sub	302	A=0.250	G=0.750
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.182	G=0.817
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.201	G=0.799

PMID	Title	Author	Journal
24962325	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Kapoor M	Drug Alcohol Depend

P-Value

SNP ID	p-value	Traits	Study
rs703717	6.7E-06	alcohol dependence (age at onset)	24962325

eQTL of rs703717 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 rs703717 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	101691390	101691641	E067	25373
chr12	101692002	101692211	E067	25985
chr12	101692243	101692491	E067	26226
chr12	101692002	101692211	E069	25985
chr12	101692243	101692491	E069	26226
chr12	101684127	101684167	E071	18110
chr12	101691390	101691641	E071	25373
chr12	101691390	101691641	E072	25373
chr12	101692002	101692211	E072	25985
chr12	101632145	101633097	E081	-32920
chr12	101633155	101633205	E081	-32812
chr12	101632145	101633097	E082	-32920
chr12	101633155	101633205	E082	-32812

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr12	101673164	101673326	E067	7147
chr12	101673369	101673461	E067	7352
chr12	101673570	101674315	E067	7553
chr12	101674460	101674520	E067	8443
chr12	101674561	101674663	E067	8544
chr12	101692853	101693016	E067	26836
chr12	101693076	101693399	E067	27059
chr12	101693724	101694082	E067	27707
chr12	101673164	101673326	E068	7147
chr12	101673369	101673461	E068	7352
chr12	101673570	101674315	E068	7553
chr12	101674460	101674520	E068	8443
chr12	101674561	101674663	E068	8544
chr12	101692853	101693016	E068	26836
chr12	101693076	101693399	E068	27059
chr12	101673164	101673326	E069	7147
chr12	101673369	101673461	E069	7352
chr12	101673570	101674315	E069	7553
chr12	101674460	101674520	E069	8443
chr12	101674561	101674663	E069	8544
chr12	101692853	101693016	E069	26836
chr12	101693076	101693399	E069	27059
chr12	101693724	101694082	E069	27707
chr12	101673164	101673326	E070	7147
chr12	101673369	101673461	E070	7352
chr12	101673570	101674315	E070	7553
chr12	101674460	101674520	E070	8443
chr12	101674561	101674663	E070	8544
chr12	101673056	101673115	E071	7039
chr12	101673121	101673150	E071	7104
chr12	101673164	101673326	E071	7147
chr12	101673369	101673461	E071	7352
chr12	101673570	101674315	E071	7553
chr12	101674460	101674520	E071	8443
chr12	101674561	101674663	E071	8544
chr12	101692853	101693016	E071	26836
chr12	101693076	101693399	E071	27059
chr12	101693724	101694082	E071	27707
chr12	101673164	101673326	E072	7147
chr12	101673369	101673461	E072	7352
chr12	101673570	101674315	E072	7553
chr12	101674460	101674520	E072	8443
chr12	101674561	101674663	E072	8544
chr12	101692853	101693016	E072	26836
chr12	101693076	101693399	E072	27059
chr12	101673164	101673326	E073	7147
chr12	101673369	101673461	E073	7352
chr12	101673570	101674315	E073	7553
chr12	101674460	101674520	E073	8443
chr12	101674561	101674663	E073	8544
chr12	101673164	101673326	E074	7147
chr12	101673369	101673461	E074	7352
chr12	101673570	101674315	E074	7553
chr12	101674460	101674520	E074	8443
chr12	101674561	101674663	E074	8544
chr12	101692853	101693016	E074	26836
chr12	101693076	101693399	E074	27059
chr12	101693724	101694082	E074	27707
chr12	101673369	101673461	E081	7352
chr12	101673570	101674315	E081	7553
chr12	101674460	101674520	E081	8443
chr12	101674561	101674663	E081	8544
chr12	101673056	101673115	E082	7039
chr12	101673121	101673150	E082	7104
chr12	101673164	101673326	E082	7147
chr12	101673369	101673461	E082	7352
chr12	101673570	101674315	E082	7553
chr12	101674460	101674520	E082	8443
chr12	101674561	101674663	E082	8544