SNP Detail Info-rs12101174

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

PRKCH : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0081 (2439/29980,GnomAD)
G=0087 (2544/29118,TOPMED)
G=0116 (579/5008,1000G)
G=0079 (306/3854,ALSPAC)
G=0077 (286/3708,TWINSUK)

Position: chr14:61332107 (GRCh38.p7) (14q23.1)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 6 Enhancers around

Promoter: 16 Promoters around

Molecule type	Change	Amino acid[Codon]	SO Term
PRKCH transcript	NM_006255.4:c.	N/A	Intron Variant
PRKCH transcript variant X3	XM_011536956.1:c.	N/A	Intron Variant
PRKCH transcript variant X7	XM_011536957.1:c.	N/A	Intron Variant
PRKCH transcript variant X5	XM_017021458.1:c.	N/A	Intron Variant
PRKCH transcript variant X8	XM_017021459.1:c.	N/A	Intron Variant
PRKCH transcript variant X1	XM_011536954.2:c.	N/A	Genic Upstream Transcript Variant
PRKCH transcript variant X2	XM_011536955.1:c.	N/A	Genic Upstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.920	G=0.080
1000Genomes	American	Sub	694	A=0.860	G=0.140
1000Genomes	East Asian	Sub	1008	A=0.831	G=0.169
1000Genomes	Europe	Sub	1006	A=0.917	G=0.083
1000Genomes	Global	Study-wide	5008	A=0.884	G=0.116
1000Genomes	South Asian	Sub	978	A=0.870	G=0.130
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.921	G=0.079
The Genome Aggregation Database	African	Sub	8726	A=0.914	G=0.086
The Genome Aggregation Database	American	Sub	836	A=0.860	G=0.140
The Genome Aggregation Database	East Asian	Sub	1620	A=0.851	G=0.149
The Genome Aggregation Database	Europe	Sub	18496	A=0.929	G=0.070
The Genome Aggregation Database	Global	Study-wide	29980	A=0.918	G=0.081
The Genome Aggregation Database	Other	Sub	302	A=0.920	G=0.080
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.912	G=0.087
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.923	G=0.077

PMID	Title	Author	Journal
19268276	Genome-wide association study of smoking initiation and current smoking.	Vink JM	Am J Hum Genet

SNP ID	p-value	Traits	Study
rs12101174	0.000607	nicotine smoking	19268276

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 )
chr14	61818760	61818855	E068	19935
chr14	61818917	61819182	E068	20092
chr14	61763024	61763192	E074	-35633
chr14	61763255	61763305	E074	-35520
chr14	61763320	61763370	E074	-35455
chr14	61786090	61786151	E082	-12674

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr14	61787411	61790202	E067	-8623
chr14	61787411	61790202	E068	-8623
chr14	61790272	61790352	E068	-8473
chr14	61790469	61790517	E068	-8308
chr14	61790536	61790687	E068	-8138
chr14	61790824	61791035	E068	-7790
chr14	61787411	61790202	E069	-8623
chr14	61787411	61790202	E071	-8623
chr14	61790272	61790352	E071	-8473
chr14	61790469	61790517	E071	-8308
chr14	61790536	61790687	E071	-8138
chr14	61790824	61791035	E071	-7790
chr14	61787411	61790202	E072	-8623
chr14	61787411	61790202	E073	-8623
chr14	61787411	61790202	E074	-8623
chr14	61787411	61790202	E082	-8623

rs12101174