SNP Detail Info-rs3923350

Organism: Homo sapiens

Alleles: G>T

Gene : Feature

LRP1B : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0237 (7100/29912,GnomAD)
T=0246 (7163/29118,TOPMED)
T=0240 (1204/5008,1000G)
T=0226 (871/3854,ALSPAC)
T=0232 (860/3708,TWINSUK)

Position: chr2:140482029 (GRCh38.p7) (2q22.1)

Phenotype: ND

Dataset:

GWASdb2

Publications: 3 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.140482029G>T
GRCh37.p13 chr 2	NC_000002.11:g.141239598G>T

Molecule type	Change	Amino acid[Codon]	SO Term
LRP1B transcript	NM_018557.2:c.	N/A	Intron Variant
LRP1B transcript variant X1	XM_017004341.1:c.	N/A	Intron Variant
LRP1B transcript variant X3	XM_017004342.1:c.	N/A	Intron Variant
LRP1B transcript variant X2	XR_001738778.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.812	T=0.188
1000Genomes	American	Sub	694	G=0.580	T=0.420
1000Genomes	East Asian	Sub	1008	G=0.756	T=0.244
1000Genomes	Europe	Sub	1006	G=0.732	T=0.268
1000Genomes	Global	Study-wide	5008	G=0.760	T=0.240
1000Genomes	South Asian	Sub	978	G=0.850	T=0.150
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.774	T=0.226
The Genome Aggregation Database	African	Sub	8714	G=0.801	T=0.199
The Genome Aggregation Database	American	Sub	834	G=0.570	T=0.430
The Genome Aggregation Database	East Asian	Sub	1616	G=0.773	T=0.227
The Genome Aggregation Database	Europe	Sub	18448	G=0.754	T=0.246
The Genome Aggregation Database	Global	Study-wide	29912	G=0.762	T=0.237
The Genome Aggregation Database	Other	Sub	300	G=0.670	T=0.330
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.754	T=0.246
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.768	T=0.232

PMID	Title	Author	Journal
17903300	Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project.	Fox CS	BMC Med Genet
19268276	Genome-wide association study of smoking initiation and current smoking.	Vink JM	Am J Hum Genet
25035082	XRCC5 as a risk gene for alcohol dependence: evidence from a genome-wide gene-set-based analysis and follow-up studies in Drosophila and humans.	Juraeva D	Neuropsychopharmacology

SNP ID	p-value	Traits	Study
rs3923350	0.000589	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

rs3923350