SNP Detail Info-rs4970712

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.92527990A>C
GRCh37.p13 chr 1	NC_000001.10:g.92993547A>C

Molecule type	Change	Amino acid[Codon]	SO Term
EVI5 transcript variant 1	NM_001308248.1:c.	N/A	Intron Variant
EVI5 transcript variant 2	NM_005665.5:c.	N/A	Intron Variant
EVI5 transcript variant X1	XM_017002269.1:c.	N/A	Intron Variant
EVI5 transcript variant X2	XM_017002270.1:c.	N/A	Intron Variant
EVI5 transcript variant X3	XM_017002271.1:c.	N/A	Intron Variant
EVI5 transcript variant X4	XM_017002272.1:c.	N/A	Intron Variant
EVI5 transcript variant X5	XM_017002273.1:c.	N/A	Intron Variant
EVI5 transcript variant X6	XM_017002274.1:c.	N/A	Intron Variant
EVI5 transcript variant X7	XM_017002275.1:c.	N/A	Intron Variant
EVI5 transcript variant X8	XM_017002276.1:c.	N/A	Intron Variant
EVI5 transcript variant X10	XM_017002277.1:c.	N/A	Intron Variant
EVI5 transcript variant X11	XM_017002278.1:c.	N/A	Intron Variant
EVI5 transcript variant X12	XM_017002279.1:c.	N/A	Intron Variant
EVI5 transcript variant X12	XM_017002280.1:c.	N/A	Intron Variant
EVI5 transcript variant X13	XM_017002281.1:c.	N/A	Intron Variant
EVI5 transcript variant X16	XM_017002282.1:c.	N/A	Intron Variant
EVI5 transcript variant X17	XM_017002283.1:c.	N/A	Intron Variant
EVI5 transcript variant X16	XM_017002284.1:c.	N/A	Intron Variant
EVI5 transcript variant X17	XM_017002285.1:c.	N/A	Intron Variant
EVI5 transcript variant X18	XM_017002286.1:c.	N/A	Intron Variant
EVI5 transcript variant X19	XM_017002287.1:c.	N/A	Intron Variant
EVI5 transcript variant X21	XM_017002288.1:c.	N/A	Intron Variant
EVI5 transcript variant X22	XR_001737401.1:n.	N/A	Genic Downstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.051	C=0.949
1000Genomes	American	Sub	694	A=0.110	C=0.890
1000Genomes	East Asian	Sub	1008	A=0.025	C=0.975
1000Genomes	Europe	Sub	1006	A=0.193	C=0.807
1000Genomes	Global	Study-wide	5008	A=0.080	C=0.920
1000Genomes	South Asian	Sub	978	A=0.040	C=0.960
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.209	C=0.791
The Genome Aggregation Database	African	Sub	8724	A=0.075	C=0.925
The Genome Aggregation Database	American	Sub	836	A=0.090	C=0.910
The Genome Aggregation Database	East Asian	Sub	1622	A=0.035	C=0.965
The Genome Aggregation Database	Europe	Sub	18484	A=0.197	C=0.803
The Genome Aggregation Database	Global	Study-wide	29968	A=0.148	C=0.851
The Genome Aggregation Database	Other	Sub	302	A=0.090	C=0.910
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.133	C=0.866
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.206	C=0.794

PMID	Title	Author	Journal
20087403	Tag-SNP analysis of the GFI1-EVI5-RPL5-FAM69 risk locus for multiple sclerosis.	Alcina A	Eur J Hum Genet
23953852	Genome-wide association studies of maximum number of drinks.	Pan Y	J Psychiatr Res

SNP ID	p-value	Traits	Study
rs4970712	4.9E-05	alcohol consumption	23953852

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr1:92993547	EVI5	ENSG00000067208.10	A>C	3.7726e-3	-264414	Hippocampus

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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr1	93042933	93043029	E069	49386
chr1	93043166	93043387	E069	49619
chr1	93017256	93017506	E071	23709
chr1	93017256	93017506	E082	23709

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	92952116	92952373	E067	-41174
chr1	92952116	92952373	E068	-41174
chr1	92952116	92952373	E069	-41174
chr1	92952375	92952837	E069	-40710
chr1	92952116	92952373	E071	-41174
chr1	92952375	92952837	E071	-40710
chr1	92952116	92952373	E072	-41174
chr1	92947570	92952045	E073	-41502
chr1	92952116	92952373	E073	-41174
chr1	92952116	92952373	E074	-41174
chr1	92952375	92952837	E074	-40710

rs4970712