rs8044334

Homo sapiens
T>G
PKD1L2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0396 (11788/29744,GnomAD)
G=0423 (12340/29118,TOPMED)
G=0399 (1996/5008,1000G)
G=0357 (1374/3854,ALSPAC)
G=0357 (1325/3708,TWINSUK)
chr16:81215330 (GRCh38.p7) (16q23.2)
AD
GWASdb2
3   publication(s)
See rs on genome
58 Enhancers around
7 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.81215330T>G
GRCh37.p13 chr 16NC_000016.9:g.81248935T>G
PKD1L2 RefSeqGeneNG_033236.1:g.10041A>C

Gene: PKD1L2, polycystin 1 like 2 (gene/pseudogene)(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PKD1L2 transcript variant 3NM_001076780.1:c.N/AIntron Variant
PKD1L2 transcript variant 1NM_052892.3:c.N/AIntron Variant
PKD1L2 transcript variant 5NM_001278423.1:c.N/AGenic Upstream Transcript Variant
PKD1L2 transcript variant 4NM_001278425.1:c.N/AGenic Upstream Transcript Variant
PKD1L2 transcript variant 1, non-codingNR_126532.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.458G=0.542
1000GenomesAmericanSub694T=0.670G=0.330
1000GenomesEast AsianSub1008T=0.562G=0.438
1000GenomesEuropeSub1006T=0.659G=0.341
1000GenomesGlobalStudy-wide5008T=0.601G=0.399
1000GenomesSouth AsianSub978T=0.730G=0.270
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.643G=0.357
The Genome Aggregation DatabaseAfricanSub8656T=0.465G=0.535
The Genome Aggregation DatabaseAmericanSub830T=0.680G=0.320
The Genome Aggregation DatabaseEast AsianSub1602T=0.597G=0.403
The Genome Aggregation DatabaseEuropeSub18354T=0.663G=0.336
The Genome Aggregation DatabaseGlobalStudy-wide29744T=0.603G=0.396
The Genome Aggregation DatabaseOtherSub302T=0.750G=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.576G=0.423
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.643G=0.357
PMID Title Author Journal
19185284Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study.Ferrucci LAm J Hum Genet
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry
23656756Single nucleotide polymorphisms in CETP, SLC46A1, SLC19A1, CD36, BCMO1, APOA5, and ABCA1 are significant predictors of plasma HDL in healthy adults.Clifford AJLipids Health Dis

P-Value

SNP ID p-value Traits Study
rs80443348.9E-05alcoholism (heaviness of drinking)21529783

eQTL of rs8044334 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 rs8044334 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 )
chr168122267981223276E067-25659
chr168122365481223725E067-25210
chr168122417881224725E067-24210
chr168123860081239084E067-9851
chr168122267981223276E068-25659
chr168122365481223725E068-25210
chr168122417881224725E068-24210
chr168123838481238480E068-10455
chr168123860081239084E068-9851
chr168124664481246737E068-2198
chr168124684181246901E068-2034
chr168124695981247049E068-1886
chr168124843881248703E068-232
chr168127089181271591E06821956
chr168127162581271760E06822690
chr168121900581219283E069-29652
chr168122365481223725E069-25210
chr168122417881224725E069-24210
chr168123036981230681E069-18254
chr168123085881230908E069-18027
chr168123493681235166E069-13769
chr168123838481238480E069-10455
chr168123860081239084E069-9851
chr168127089181271591E06921956
chr168127162581271760E06922690
chr168121900581219283E071-29652
chr168122267981223276E071-25659
chr168122365481223725E071-25210
chr168122417881224725E071-24210
chr168122984981230009E071-18926
chr168123007181230135E071-18800
chr168123860081239084E071-9851
chr168123921381239263E071-9672
chr168124664481246737E071-2198
chr168124684181246901E071-2034
chr168124695981247049E071-1886
chr168127089181271591E07121956
chr168127162581271760E07122690
chr168129703181297982E07148096
chr168129814881298198E07149213
chr168129832281298421E07149387
chr168121900581219283E072-29652
chr168122267981223276E072-25659
chr168122365481223725E072-25210
chr168122417881224725E072-24210
chr168123194281231992E072-16943
chr168123838481238480E072-10455
chr168123860081239084E072-9851
chr168127089181271591E07221956
chr168122267981223276E073-25659
chr168121900581219283E074-29652
chr168121984781220096E074-28839
chr168122267981223276E074-25659
chr168122365481223725E074-25210
chr168122417881224725E074-24210
chr168123493681235166E074-13769
chr168123838481238480E074-10455
chr168123860081239084E074-9851







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr168127180181272604E06722866
chr168127180181272604E06822866
chr168127180181272604E06922866
chr168127180181272604E07122866
chr168127180181272604E07222866
chr168127180181272604E07322866
chr168127180181272604E07422866