rs6999315

Homo sapiens
A>G
PSD3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0208 (6245/29960,GnomAD)
G=0211 (6149/29118,TOPMED)
G=0242 (1210/5008,1000G)
G=0208 (801/3854,ALSPAC)
G=0194 (720/3708,TWINSUK)
chr8:18937535 (GRCh38.p7) (8p22)
AD
GWASdb2
1   publication(s)
See rs on genome
124 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.18937535A>G
GRCh37.p13 chr 8NC_000008.10:g.18795045A>G

Gene: PSD3, pleckstrin and Sec7 domain containing 3(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PSD3 transcript variant 1NM_015310.3:c.N/AIntron Variant
PSD3 transcript variant 2NM_206909.2:c.N/AGenic Upstream Transcript Variant
PSD3 transcript variant X6XM_011544467.2:c.N/AIntron Variant
PSD3 transcript variant X7XM_011544468.2:c.N/AIntron Variant
PSD3 transcript variant X8XM_011544469.2:c.N/AIntron Variant
PSD3 transcript variant X10XM_011544471.2:c.N/AIntron Variant
PSD3 transcript variant X11XM_011544473.2:c.N/AIntron Variant
PSD3 transcript variant X1XM_017013258.1:c.N/AIntron Variant
PSD3 transcript variant X2XM_017013259.1:c.N/AIntron Variant
PSD3 transcript variant X3XM_017013260.1:c.N/AIntron Variant
PSD3 transcript variant X5XM_017013262.1:c.N/AIntron Variant
PSD3 transcript variant X12XM_017013263.1:c.N/AIntron Variant
PSD3 transcript variant X13XM_017013264.1:c.N/AIntron Variant
PSD3 transcript variant X4XM_017013261.1:c.N/AGenic Upstream Transcript Variant
PSD3 transcript variant X14XM_017013265.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.788G=0.212
1000GenomesAmericanSub694A=0.780G=0.220
1000GenomesEast AsianSub1008A=0.661G=0.339
1000GenomesEuropeSub1006A=0.798G=0.202
1000GenomesGlobalStudy-wide5008A=0.758G=0.242
1000GenomesSouth AsianSub978A=0.760G=0.240
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.792G=0.208
The Genome Aggregation DatabaseAfricanSub8718A=0.789G=0.211
The Genome Aggregation DatabaseAmericanSub836A=0.770G=0.230
The Genome Aggregation DatabaseEast AsianSub1614A=0.639G=0.361
The Genome Aggregation DatabaseEuropeSub18490A=0.806G=0.193
The Genome Aggregation DatabaseGlobalStudy-wide29960A=0.791G=0.208
The Genome Aggregation DatabaseOtherSub302A=0.820G=0.180
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.788G=0.211
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.806G=0.194
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
rs69993150.00083alcohol dependence20201924

eQTL of rs6999315 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 rs6999315 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 )
chr81875064618750690E067-44355
chr81875128618751379E067-43666
chr81875161518751834E067-43211
chr81875233118752385E067-42660
chr81875243818752493E067-42552
chr81875257718752631E067-42414
chr81881478618815608E06719741
chr81883541418835959E06740369
chr81875064618750690E068-44355
chr81875128618751379E068-43666
chr81875161518751834E068-43211
chr81880463118805012E0689586
chr81880530518805349E06810260
chr81880550418805557E06810459
chr81880583418805953E06810789
chr81881478618815608E06819741
chr81881561418815899E06820569
chr81881759018817685E06822545
chr81882214918822280E06827104
chr81882230118823349E06827256
chr81883081318830934E06835768
chr81883102118831104E06835976
chr81883121318831280E06836168
chr81883176218831921E06836717
chr81883196918832246E06836924
chr81883226618832685E06837221
chr81883541418835959E06840369
chr81875128618751379E069-43666
chr81875161518751834E069-43211
chr81881478618815608E06919741
chr81882165618821902E06926611
chr81882214918822280E06927104
chr81882230118823349E06927256
chr81883764518837899E06942600
chr81875128618751379E070-43666
chr81880463118805012E0709586
chr81880530518805349E07010260
chr81880550418805557E07010459
chr81880583418805953E07010789
chr81880962318809759E07014578
chr81881018518810235E07015140
chr81883121318831280E07036168
chr81883196918832246E07036924
chr81883226618832685E07037221
chr81883277118832821E07037726
chr81883285318833335E07037808
chr81883491318835012E07039868
chr81883541418835959E07040369
chr81883603418837076E07040989
chr81883712218837274E07042077
chr81875064618750690E071-44355
chr81875128618751379E071-43666
chr81875161518751834E071-43211
chr81875233118752385E071-42660
chr81875243818752493E071-42552
chr81875257718752631E071-42414
chr81875270218753040E071-42005
chr81880530518805349E07110260
chr81881433218814412E07119287
chr81881450118814639E07119456
chr81881478618815608E07119741
chr81882214918822280E07127104
chr81882230118823349E07127256
chr81882343018823470E07128385
chr81882353418823829E07128489
chr81883121318831280E07136168
chr81883176218831921E07136717
chr81883196918832246E07136924
chr81883226618832685E07137221
chr81883712218837274E07142077
chr81883733618837446E07142291
chr81883764518837899E07142600
chr81883800318838063E07142958
chr81883838118838491E07143336
chr81874905718749107E072-45938
chr81874935718749734E072-45311
chr81875064618750690E072-44355
chr81875128618751379E072-43666
chr81875161518751834E072-43211
chr81875233118752385E072-42660
chr81875243818752493E072-42552
chr81875257718752631E072-42414
chr81882230118823349E07227256
chr81883176218831921E07236717
chr81875128618751379E073-43666
chr81875161518751834E073-43211
chr81876599718766047E073-28998
chr81881478618815608E07319741
chr81881561418815899E07320569
chr81883541418835959E07340369
chr81883603418837076E07340989
chr81875064618750690E074-44355
chr81875128618751379E074-43666
chr81875161518751834E074-43211
chr81875233118752385E074-42660
chr81875243818752493E074-42552
chr81875257718752631E074-42414
chr81881450118814639E07419456
chr81881478618815608E07419741
chr81881681818817428E07421773
chr81881759018817685E07422545
chr81882214918822280E07427104
chr81882230118823349E07427256
chr81883491318835012E07439868
chr81883523018835279E07440185
chr81875270218753040E081-42005
chr81875329318753353E081-41692
chr81875343118753958E081-41087
chr81880233118802491E0817286
chr81880256218802685E0817517
chr81881478618815608E08119741
chr81883196918832246E08136924
chr81883226618832685E08137221
chr81883603418837076E08140989
chr81876859618768714E082-26331
chr81879354718793641E082-1404
chr81881759018817685E08222545
chr81881780618817882E08222761
chr81881806218818190E08223017
chr81883121318831280E08236168
chr81883176218831921E08236717
chr81883196918832246E08236924
chr81883712218837274E08242077
chr81883733618837446E08242291