SNP Detail Info-rs12705421

Sequence Name	Change(s)
GRCh38.p7 chr 7	NC_000007.14:g.107760984A>G
GRCh37.p13 chr 7	NC_000007.13:g.107401429A>G

Molecule type	Change	Amino acid[Codon]	SO Term
CBLL1 transcript variant 3	NM_001284291.1:c.	N/A	3 Prime UTR Variant
CBLL1 transcript variant 1	NM_024814.3:c.	N/A	3 Prime UTR Variant
CBLL1 transcript variant 2	NR_024199.2:n.382...NR_024199.2:n.3822A>G	A>G	Non Coding Transcript Variant
CBLL1 transcript variant X1	XM_017012643.1:c.	N/A	3 Prime UTR Variant
CBLL1 transcript variant X6	XM_017012644.1:c.	N/A	3 Prime UTR Variant
CBLL1 transcript variant X3	XM_011516580.2:c.	N/A	3 Prime UTR Variant
CBLL1 transcript variant X8	XM_017012645.1:c.	N/A	3 Prime UTR Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.927	G=0.073
1000Genomes	American	Sub	694	A=0.710	G=0.290
1000Genomes	East Asian	Sub	1008	A=0.656	G=0.344
1000Genomes	Europe	Sub	1006	A=0.736	G=0.264
1000Genomes	Global	Study-wide	5008	A=0.727	G=0.273
1000Genomes	South Asian	Sub	978	A=0.530	G=0.470
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.756	G=0.244
The Genome Aggregation Database	African	Sub	8718	A=0.902	G=0.098
The Genome Aggregation Database	American	Sub	838	A=0.690	G=0.310
The Genome Aggregation Database	East Asian	Sub	1604	A=0.635	G=0.365
The Genome Aggregation Database	Europe	Sub	18446	A=0.718	G=0.281
The Genome Aggregation Database	Global	Study-wide	29908	A=0.767	G=0.232
The Genome Aggregation Database	Other	Sub	302	A=0.780	G=0.220
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.747	G=0.253

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
rs12705421	7.57E-05	alcohol consumption	23743675

eQTL of rs12705421 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr7:107401429	AC002467.7	ENSG00000241764.3	A>G	1.1747e-4	16548	Cerebellum
Chr7:107401429	AC002467.7	ENSG00000241764.3	A>G	2.1985e-5	16548	Frontal_Cortex_BA9
Chr7:107401429	AC002467.7	ENSG00000241764.3	A>G	1.0521e-4	16548	Cortex
Chr7:107401429	AC002467.7	ENSG00000241764.3	A>G	4.1131e-5	16548	Cerebellar_Hemisphere
Chr7:107401429	AC002467.7	ENSG00000241764.3	A>G	2.6099e-4	16548	Anterior_cingulate_cortex
Chr7:107401429	AC002467.7	ENSG00000241764.3	A>G	1.0776e-3	16548	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	-18330
chr7	107386669	107386772	E067	-14657
chr7	107387624	107387709	E067	-13720
chr7	107387798	107387880	E067	-13549
chr7	107382753	107382818	E068	-18611
chr7	107386669	107386772	E068	-14657
chr7	107387624	107387709	E068	-13720
chr7	107387798	107387880	E068	-13549
chr7	107387932	107387978	E068	-13451
chr7	107388350	107388400	E068	-13029
chr7	107383023	107383099	E069	-18330
chr7	107386669	107386772	E069	-14657
chr7	107387624	107387709	E069	-13720
chr7	107387798	107387880	E069	-13549
chr7	107387932	107387978	E069	-13451
chr7	107383023	107383099	E070	-18330
chr7	107386669	107386772	E070	-14657
chr7	107387798	107387880	E070	-13549
chr7	107387932	107387978	E070	-13451
chr7	107388350	107388400	E070	-13029
chr7	107383023	107383099	E071	-18330
chr7	107383023	107383099	E072	-18330
chr7	107386669	107386772	E072	-14657
chr7	107386669	107386772	E082	-14657
chr7	107387798	107387880	E082	-13549
chr7	107387932	107387978	E082	-13451
chr7	107388350	107388400	E082	-13029

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr7	107383118	107385525	E067	-15904
chr7	107383118	107385525	E068	-15904
chr7	107383118	107385525	E069	-15904
chr7	107383118	107385525	E070	-15904
chr7	107383118	107385525	E071	-15904
chr7	107383118	107385525	E072	-15904
chr7	107383118	107385525	E073	-15904
chr7	107383118	107385525	E074	-15904
chr7	107383118	107385525	E081	-15904
chr7	107383118	107385525	E082	-15904

rs12705421