rs713179

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

SNTG1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0204 (6121/29940,GnomAD)
G=0215 (6277/29118,TOPMED)
G=0219 (1099/5008,1000G)
G=0195 (751/3854,ALSPAC)
G=0203 (754/3708,TWINSUK)

Position: chr8:50700923 (GRCh38.p7) (8q11.21)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 3 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 8	NC_000008.11:g.50700923A>G
GRCh37.p13 chr 8	NC_000008.10:g.51613483A>G

Gene: SNTG1, syntrophin gamma 1(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SNTG1 transcript variant 2	NM_001287813.2:c.	N/A	Intron Variant
SNTG1 transcript variant 3	NM_001287814.2:c.	N/A	Intron Variant
SNTG1 transcript variant 4	NM_001321773.1:c.	N/A	Intron Variant
SNTG1 transcript variant 5	NM_001321775.1:c.	N/A	Intron Variant
SNTG1 transcript variant 6	NM_001321776.1:c.	N/A	Intron Variant
SNTG1 transcript variant 7	NM_001321777.1:c.	N/A	Intron Variant
SNTG1 transcript variant 8	NM_001321778.1:c.	N/A	Intron Variant
SNTG1 transcript variant 1	NM_018967.4:c.	N/A	Intron Variant
SNTG1 transcript variant 9	NR_135794.1:n.	N/A	Intron Variant
SNTG1 transcript variant 10	NR_135795.1:n.	N/A	Intron Variant
SNTG1 transcript variant 11	NR_135796.1:n.	N/A	Intron Variant
SNTG1 transcript variant 12	NR_135797.1:n.	N/A	Intron Variant
SNTG1 transcript variant 13	NR_135798.1:n.	N/A	Intron Variant
SNTG1 transcript variant X4	XM_011517548.2:c.	N/A	Intron Variant
SNTG1 transcript variant X2	XM_017013579.1:c.	N/A	Intron Variant
SNTG1 transcript variant X2	XM_017013580.1:c.	N/A	Intron Variant
SNTG1 transcript variant X5	XM_017013581.1:c.	N/A	Genic Downstream Transcript Variant
SNTG1 transcript variant X6	XM_017013582.1:c.	N/A	Genic Downstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.775	G=0.225
1000Genomes	American	Sub	694	A=0.820	G=0.180
1000Genomes	East Asian	Sub	1008	A=0.797	G=0.203
1000Genomes	Europe	Sub	1006	A=0.806	G=0.194
1000Genomes	Global	Study-wide	5008	A=0.781	G=0.219
1000Genomes	South Asian	Sub	978	A=0.720	G=0.280
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.805	G=0.195
The Genome Aggregation Database	African	Sub	8716	A=0.791	G=0.209
The Genome Aggregation Database	American	Sub	836	A=0.760	G=0.240
The Genome Aggregation Database	East Asian	Sub	1620	A=0.781	G=0.219
The Genome Aggregation Database	Europe	Sub	18466	A=0.801	G=0.198
The Genome Aggregation Database	Global	Study-wide	29940	A=0.795	G=0.204
The Genome Aggregation Database	Other	Sub	302	A=0.760	G=0.240
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.784	G=0.215
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.797	G=0.203

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
rs713179	0.000506	alcohol dependence	21314694

eQTL of rs713179 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 rs713179 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 )
chr8	51595902	51596076	E070	-17407
chr8	51596146	51596212	E070	-17271
chr8	51596229	51596286	E070	-17197