SNP Detail Info-rs930707

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

DDC : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0056 (1689/29972,GnomAD)
A==0084 (2445/29118,TOPMED)
A==0055 (275/5008,1000G)
A==0016 (62/3854,ALSPAC)
A==0012 (45/3708,TWINSUK)

Position: chr7:50551980 (GRCh38.p7) (7p12.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 25 Enhancers around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
DDC transcript variant 2	NM_000790.3:c.	N/A	Intron Variant
DDC transcript variant 1	NM_001082971.1:c.	N/A	Intron Variant
DDC transcript variant 3	NM_001242886.1:c.	N/A	Intron Variant
DDC transcript variant 4	NM_001242887.1:c.	N/A	Intron Variant
DDC transcript variant 5	NM_001242888.1:c.	N/A	Intron Variant
DDC transcript variant 6	NM_001242889.1:c.	N/A	Intron Variant
DDC transcript variant 7	NM_001242890.1:c.	N/A	Intron Variant
DDC transcript variant X2	XM_005271745.4:c.	N/A	Intron Variant
DDC transcript variant X1	XM_011515161.2:c.	N/A	Genic Upstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.180	G=0.820
1000Genomes	American	Sub	694	A=0.010	G=0.990
1000Genomes	East Asian	Sub	1008	A=0.001	G=0.999
1000Genomes	Europe	Sub	1006	A=0.017	G=0.983
1000Genomes	Global	Study-wide	5008	A=0.055	G=0.945
1000Genomes	South Asian	Sub	978	A=0.010	G=0.990
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.016	G=0.984
The Genome Aggregation Database	African	Sub	8718	A=0.162	G=0.838
The Genome Aggregation Database	American	Sub	838	A=0.020	G=0.980
The Genome Aggregation Database	East Asian	Sub	1618	A=0.000	G=1.000
The Genome Aggregation Database	Europe	Sub	18496	A=0.014	G=0.985
The Genome Aggregation Database	Global	Study-wide	29972	A=0.056	G=0.943
The Genome Aggregation Database	Other	Sub	302	A=0.000	G=1.000
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.084	G=0.916
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.012	G=0.988

PMID	Title	Author	Journal
23953852	Genome-wide association studies of maximum number of drinks.	Pan Y	J Psychiatr Res

SNP ID	p-value	Traits	Study
rs930707	5.27E-05	alcohol consumption	23953852

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr7	50598960	50599691	E067	-19987
chr7	50599710	50599919	E067	-19759
chr7	50599948	50600033	E067	-19645
chr7	50600073	50600144	E067	-19534
chr7	50602342	50602965	E068	-16713
chr7	50599710	50599919	E069	-19759
chr7	50599948	50600033	E069	-19645
chr7	50600073	50600144	E069	-19534
chr7	50652602	50653144	E069	32924
chr7	50595823	50595915	E070	-23763
chr7	50595987	50596159	E070	-23519
chr7	50598960	50599691	E070	-19987
chr7	50600073	50600144	E070	-19534
chr7	50623847	50624736	E070	4169
chr7	50624833	50625171	E070	5155
chr7	50625206	50625424	E070	5528
chr7	50625457	50625501	E070	5779
chr7	50628526	50629016	E070	8848
chr7	50628526	50629016	E071	8848
chr7	50628315	50628425	E074	8637
chr7	50628526	50629016	E074	8848
chr7	50598960	50599691	E081	-19987
chr7	50599710	50599919	E081	-19759
chr7	50599948	50600033	E081	-19645
chr7	50628526	50629016	E082	8848

rs930707