SNP Detail Info-rs2602189

Organism: Homo sapiens

Alleles: A>C

Gene : Feature

CCDC148 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0127 (3810/29972,GnomAD)
C=0134 (3923/29118,TOPMED)
C=0137 (688/5008,1000G)
C=0140 (540/3854,ALSPAC)
C=0156 (577/3708,TWINSUK)

Position: chr2:158284712 (GRCh38.p7) (2q24.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 6 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.158284712A>C
GRCh37.p13 chr 2	NC_000002.11:g.159141224A>C

Molecule type	Change	Amino acid[Codon]	SO Term
CCDC148 transcript variant 3	NM_001301684.1:c.	N/A	Intron Variant
CCDC148 transcript variant 1	NM_138803.3:c.	N/A	Intron Variant
CCDC148 transcript variant 4	NM_001301685.1:c.	N/A	Genic Downstream Transcript Variant
CCDC148 transcript variant X2	XM_005246319.3:c.	N/A	Intron Variant
CCDC148 transcript variant X1	XM_011510638.2:c.	N/A	Intron Variant
CCDC148 transcript variant X3	XM_017003392.1:c.	N/A	Intron Variant
CCDC148 transcript variant X4	XM_017003393.1:c.	N/A	Intron Variant
CCDC148 transcript variant X4	XM_017003394.1:c.	N/A	Intron Variant
CCDC148 transcript variant X5	XM_017003395.1:c.	N/A	Intron Variant
CCDC148 transcript variant X6	XM_017003396.1:c.	N/A	Intron Variant
CCDC148 transcript variant X8	XM_017003397.1:c.	N/A	Intron Variant
CCDC148 transcript variant X9	XM_017003398.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.877	C=0.123
1000Genomes	American	Sub	694	A=0.890	C=0.110
1000Genomes	East Asian	Sub	1008	A=0.827	C=0.173
1000Genomes	Europe	Sub	1006	A=0.857	C=0.143
1000Genomes	Global	Study-wide	5008	A=0.863	C=0.137
1000Genomes	South Asian	Sub	978	A=0.870	C=0.130
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.860	C=0.140
The Genome Aggregation Database	African	Sub	8724	A=0.870	C=0.130
The Genome Aggregation Database	American	Sub	838	A=0.900	C=0.100
The Genome Aggregation Database	East Asian	Sub	1614	A=0.823	C=0.177
The Genome Aggregation Database	Europe	Sub	18494	A=0.878	C=0.121
The Genome Aggregation Database	Global	Study-wide	29972	A=0.872	C=0.127
The Genome Aggregation Database	Other	Sub	302	A=0.810	C=0.190
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.865	C=0.134
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.844	C=0.156

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs2602189	0.00022	alcohol dependence(early age of onset)	20201924
rs2602189	0.00074	alcohol dependence	20201924

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 )
chr2	159111859	159112044	E070	-29180
chr2	159126918	159127004	E081	-14220
chr2	159127107	159127379	E081	-13845
chr2	159127562	159127622	E081	-13602
chr2	159127797	159127848	E081	-13376
chr2	159127911	159128002	E081	-13222

rs2602189