rs6808303

Homo sapiens
T>C
PRSS46 : 5 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0226 (6774/29896,GnomAD)
C=0277 (8081/29118,TOPMED)
C=0237 (2928/12316,ExAC)
C=0252 (1264/5008,1000G)
C=0148 (572/3854,ALSPAC)
C=0147 (545/3708,TWINSUK)
chr3:46736395 (GRCh38.p7) (3p21.31)
AD
GWASdb2
1   publication(s)
See rs on genome
53 Enhancers around
13 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.46736395T>C
GRCh37.p13 chr 3NC_000003.11:g.46777885T>C

Gene: PRSS46, protease, serine 46(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PRSS46 transcriptNM_001205271.1:c.N/A5 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.545C=0.455
1000GenomesAmericanSub694T=0.790C=0.210
1000GenomesEast AsianSub1008T=0.877C=0.123
1000GenomesEuropeSub1006T=0.853C=0.147
1000GenomesGlobalStudy-wide5008T=0.748C=0.252
1000GenomesSouth AsianSub978T=0.750C=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.852C=0.148
The Exome Aggregation ConsortiumAmericanSub754T=0.640C=0.360
The Exome Aggregation ConsortiumAsianSub7812T=0.733C=0.267
The Exome Aggregation ConsortiumEuropeSub3618T=0.850C=0.150
The Exome Aggregation ConsortiumGlobalStudy-wide12316T=0.762C=0.237
The Exome Aggregation ConsortiumOtherSub132T=0.820C=0.180
The Genome Aggregation DatabaseAfricanSub8694T=0.599C=0.401
The Genome Aggregation DatabaseAmericanSub834T=0.780C=0.220
The Genome Aggregation DatabaseEast AsianSub1618T=0.901C=0.099
The Genome Aggregation DatabaseEuropeSub18450T=0.842C=0.157
The Genome Aggregation DatabaseGlobalStudy-wide29896T=0.773C=0.226
The Genome Aggregation DatabaseOtherSub300T=0.860C=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.722C=0.277
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.853C=0.147
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
rs68083030.000223alcohol dependence20201924

eQTL of rs6808303 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr3:46777885PRSS45ENSG00000188086.8T>C1.8047e-9-75321Cerebellum
Chr3:46777885PRSS45ENSG00000188086.8T>C8.0486e-7-75321Nucleus_accumbens_basal_ganglia

meQTL of rs6808303 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.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr34673590446735978E067-41907
chr34673605546736398E067-41487
chr34673642846738419E067-39466
chr34674122446741391E067-36494
chr34674139646741758E067-36127
chr34674183146741886E067-35999
chr34674224946742627E067-35258
chr34673642846738419E068-39466
chr34673845946738584E068-39301
chr34674122446741391E068-36494
chr34674139646741758E068-36127
chr34674183146741886E068-35999
chr34674224946742627E068-35258
chr34674377946743866E068-34019
chr34674391746743991E068-33894
chr34673642846738419E069-39466
chr34674183146741886E069-35999
chr34674224946742627E069-35258
chr34674377946743866E069-34019
chr34674391746743991E069-33894
chr34674637546747178E069-30707
chr34676705546767135E069-10750
chr34676721946767423E069-10462
chr34674377946743866E070-34019
chr34674391746743991E070-33894
chr34673642846738419E071-39466
chr34673845946738584E071-39301
chr34674122446741391E071-36494
chr34674139646741758E071-36127
chr34674183146741886E071-35999
chr34674377946743866E071-34019
chr34674391746743991E071-33894
chr34673590446735978E072-41907
chr34673605546736398E072-41487
chr34673642846738419E072-39466
chr34674122446741391E072-36494
chr34674139646741758E072-36127
chr34674183146741886E072-35999
chr34673590446735978E073-41907
chr34673605546736398E073-41487
chr34673642846738419E073-39466
chr34673845946738584E073-39301
chr34674139646741758E073-36127
chr34674183146741886E073-35999
chr34674224946742627E073-35258
chr34674637546747178E073-30707
chr34674139646741758E074-36127
chr34674183146741886E074-35999
chr34674224946742627E074-35258
chr34674377946743866E074-34019
chr34674224946742627E081-35258
chr34674377946743866E081-34019
chr34674391746743991E081-33894









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr34673403246735874E067-42011
chr34673403246735874E068-42011
chr34673403246735874E069-42011
chr34673403246735874E070-42011
chr34674273246742842E070-35043
chr34673403246735874E071-42011
chr34674273246742842E071-35043
chr34673403246735874E072-42011
chr34674273246742842E072-35043
chr34673403246735874E073-42011
chr34674273246742842E073-35043
chr34673403246735874E074-42011
chr34674273246742842E082-35043