rs3818916

Homo sapiens
G>A / G>T
PCSK2 : Intron Variant
LOC105372546 : 500B Downstream Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0230 (6814/29608,GnomAD)
T=0203 (1019/5008,1000G)
T=0258 (995/3854,ALSPAC)
T=0250 (927/3708,TWINSUK)
chr20:17227076 (GRCh38.p7) (20p12.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.17227076G>A
GRCh38.p7 chr 20NC_000020.11:g.17227076G>T
GRCh37.p13 chr 20NC_000020.10:g.17207721G>A
GRCh37.p13 chr 20NC_000020.10:g.17207721G>T

Gene: PCSK2, proprotein convertase subtilisin/kexin type 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PCSK2 transcript variant 3NM_001201528.1:c.N/AIntron Variant
PCSK2 transcript variant 2NM_001201529.2:c.N/A5 Prime UTR Variant
PCSK2 transcript variant 1NM_002594.4:c.N/A5 Prime UTR Variant

Gene: LOC105372546, uncharacterized LOC105372546(minus strand): 500B Downstream Variant

Molecule type Change Amino acid[Codon] SO Term
LOC105372546 transcript variant X2XR_001754504.1:n.N/ADownstream Transcript Variant
LOC105372546 transcript variant X1XR_001754503.1:n.N/AN/A
LOC105372546 transcript variant X3XR_001754506.1:n.N/AN/A
LOC105372546 transcript variant X4XR_001754507.1:n.N/AN/A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.876T=0.124
1000GenomesAmericanSub694G=0.740T=0.260
1000GenomesEast AsianSub1008G=0.760T=0.240
1000GenomesEuropeSub1006G=0.722T=0.278
1000GenomesGlobalStudy-wide5008G=0.797T=0.203
1000GenomesSouth AsianSub978G=0.850T=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.742T=0.258
The Genome Aggregation DatabaseAfricanSub8642G=0.856T=0.144
The Genome Aggregation DatabaseAmericanSub824G=0.690T=0.310
The Genome Aggregation DatabaseEast AsianSub1606G=0.755T=0.245
The Genome Aggregation DatabaseEuropeSub18236G=0.737T=0.262
The Genome Aggregation DatabaseGlobalStudy-wide29608G=0.769T=0.230
The Genome Aggregation DatabaseOtherSub300G=0.580T=0.420
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.750T=0.250
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs38189160.0002alcohol dependence(early age of onset)20201924
rs38189160.0004alcohol dependence20201924

eQTL of rs3818916 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 rs3818916 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.