SNP Detail Info-rs13226711

Sequence Name	Change(s)
GRCh38.p7 chr 7	NC_000007.14:g.107754897G>A
GRCh37.p13 chr 7	NC_000007.13:g.107395342G>A

Molecule type	Change	Amino acid[Codon]	SO Term
CBLL1 transcript variant 3	NM_001284291.1:c.	N/A	Intron Variant
CBLL1 transcript variant 1	NM_024814.3:c.	N/A	Intron Variant
CBLL1 transcript variant 2	NR_024199.2:n.	N/A	Intron Variant
CBLL1 transcript variant X3	XM_011516580.2:c.	N/A	Intron Variant
CBLL1 transcript variant X1	XM_017012643.1:c.	N/A	Intron Variant
CBLL1 transcript variant X6	XM_017012644.1:c.	N/A	Intron Variant
CBLL1 transcript variant X8	XM_017012645.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.983	A=0.017
1000Genomes	American	Sub	694	G=0.720	A=0.280
1000Genomes	East Asian	Sub	1008	G=0.650	A=0.350
1000Genomes	Europe	Sub	1006	G=0.736	A=0.264
1000Genomes	Global	Study-wide	5008	G=0.741	A=0.259
1000Genomes	South Asian	Sub	978	G=0.530	A=0.470
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.755	A=0.245
The Genome Aggregation Database	African	Sub	8716	G=0.950	A=0.050
The Genome Aggregation Database	American	Sub	834	G=0.700	A=0.300
The Genome Aggregation Database	East Asian	Sub	1612	G=0.627	A=0.373
The Genome Aggregation Database	Europe	Sub	18428	G=0.718	A=0.281
The Genome Aggregation Database	Global	Study-wide	29892	G=0.781	A=0.218
The Genome Aggregation Database	Other	Sub	302	G=0.780	A=0.220
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.841	A=0.158
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.746	A=0.254

PMID	Title	Author	Journal
23743675	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Kapoor M	Hum Genet

SNP ID	p-value	Traits	Study
rs13226711	6.59E-05	alcohol consumption	23743675

eQTL of rs13226711 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr7:107395342	AC002467.7	ENSG00000241764.3	G>A	1.1747e-4	10461	Cerebellum
Chr7:107395342	AC002467.7	ENSG00000241764.3	G>A	2.1985e-5	10461	Frontal_Cortex_BA9
Chr7:107395342	AC002467.7	ENSG00000241764.3	G>A	1.0521e-4	10461	Cortex
Chr7:107395342	AC002467.7	ENSG00000241764.3	G>A	4.1131e-5	10461	Cerebellar_Hemisphere
Chr7:107395342	AC002467.7	ENSG00000241764.3	G>A	4.3055e-3	10461	Caudate_basal_ganglia
Chr7:107395342	AC002467.7	ENSG00000241764.3	G>A	2.6099e-4	10461	Anterior_cingulate_cortex
Chr7:107395342	AC002467.7	ENSG00000241764.3	G>A	1.0776e-3	10461	Nucleus_accumbens_basal_ganglia

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr7	107383023	107383099	E067	-12243
chr7	107386669	107386772	E067	-8570
chr7	107387624	107387709	E067	-7633
chr7	107387798	107387880	E067	-7462
chr7	107382753	107382818	E068	-12524
chr7	107386669	107386772	E068	-8570
chr7	107387624	107387709	E068	-7633
chr7	107387798	107387880	E068	-7462
chr7	107387932	107387978	E068	-7364
chr7	107388350	107388400	E068	-6942
chr7	107383023	107383099	E069	-12243
chr7	107386669	107386772	E069	-8570
chr7	107387624	107387709	E069	-7633
chr7	107387798	107387880	E069	-7462
chr7	107387932	107387978	E069	-7364
chr7	107383023	107383099	E070	-12243
chr7	107386669	107386772	E070	-8570
chr7	107387798	107387880	E070	-7462
chr7	107387932	107387978	E070	-7364
chr7	107388350	107388400	E070	-6942
chr7	107383023	107383099	E071	-12243
chr7	107383023	107383099	E072	-12243
chr7	107386669	107386772	E072	-8570
chr7	107386669	107386772	E082	-8570
chr7	107387798	107387880	E082	-7462
chr7	107387932	107387978	E082	-7364
chr7	107388350	107388400	E082	-6942

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr7	107383118	107385525	E067	-9817
chr7	107383118	107385525	E068	-9817
chr7	107383118	107385525	E069	-9817
chr7	107383118	107385525	E070	-9817
chr7	107383118	107385525	E071	-9817
chr7	107383118	107385525	E072	-9817
chr7	107383118	107385525	E073	-9817
chr7	107383118	107385525	E074	-9817
chr7	107383118	107385525	E081	-9817
chr7	107383118	107385525	E082	-9817

rs13226711