rs3923350

Homo sapiens
G>T
LRP1B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
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)
chr2:140482029 (GRCh38.p7) (2q22.1)
ND
GWASdb2
3   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

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

Gene: LRP1B, LDL receptor related protein 1B(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LRP1B transcriptNM_018557.2:c.N/AIntron Variant
LRP1B transcript variant X1XM_017004341.1:c.N/AIntron Variant
LRP1B transcript variant X3XM_017004342.1:c.N/AIntron Variant
LRP1B transcript variant X2XR_001738778.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.812T=0.188
1000GenomesAmericanSub694G=0.580T=0.420
1000GenomesEast AsianSub1008G=0.756T=0.244
1000GenomesEuropeSub1006G=0.732T=0.268
1000GenomesGlobalStudy-wide5008G=0.760T=0.240
1000GenomesSouth AsianSub978G=0.850T=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.774T=0.226
The Genome Aggregation DatabaseAfricanSub8714G=0.801T=0.199
The Genome Aggregation DatabaseAmericanSub834G=0.570T=0.430
The Genome Aggregation DatabaseEast AsianSub1616G=0.773T=0.227
The Genome Aggregation DatabaseEuropeSub18448G=0.754T=0.246
The Genome Aggregation DatabaseGlobalStudy-wide29912G=0.762T=0.237
The Genome Aggregation DatabaseOtherSub300G=0.670T=0.330
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.754T=0.246
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.768T=0.232
PMID Title Author Journal
17903300Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project.Fox CSBMC Med Genet
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet
25035082XRCC5 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 DNeuropsychopharmacology

P-Value

SNP ID p-value Traits Study
rs39233500.000589nicotine smoking19268276

eQTL of rs3923350 in Brain tissues (GTEx Analysis Release V7)

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

meQTL of rs3923350 in Fetal Brain

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

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.