rs3093927

Homo sapiens
G>A
PARP2 : Synonymous Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0020 (2491/119300,ExAC)
A=0058 (1744/29960,GnomAD)
A=0085 (2476/29118,TOPMED)
G==0058 (715/12242,GO-ESP)
A=0058 (291/5008,1000G)
A=0005 (19/3854,ALSPAC)
A=0005 (17/3708,TWINSUK)
chr14:20354936 (GRCh38.p7) (14q11.2)
AD
GWASdb2
1   publication(s)
See rs on genome
17 Enhancers around
34 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.20354936G>A
GRCh37.p13 chr 14NC_000014.8:g.20823095G>A
PARP2 RefSeqGeneNG_033959.1:g.16323G>A

Gene: PARP2, poly(ADP-ribose) polymerase 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PARP2 transcript variant 1NM_005484.3:c.930G>AP [CCG]> P [CCA]Coding Sequence Variant
poly [ADP-ribose] polymerase 2 isoform 1NP_005475.2:p.Pro...NP_005475.2:p.Pro310=P [Pro]> P [Pro]Synonymous Variant
PARP2 transcript variant 2NM_001042618.1:c....NM_001042618.1:c.891G>AP [CCG]> P [CCA]Coding Sequence Variant
poly [ADP-ribose] polymerase 2 isoform 2NP_001036083.1:p....NP_001036083.1:p.Pro297=P [Pro]> P [Pro]Synonymous Variant
PARP2 transcript variant X1XM_005267247.3:c....XM_005267247.3:c.930G>AP [CCG]> P [CCA]Coding Sequence Variant
poly [ADP-ribose] polymerase 2 isoform X1XP_005267304.1:p....XP_005267304.1:p.Pro310=P [Pro]> P [Pro]Synonymous Variant
PARP2 transcript variant X2XM_017020912.1:c....XM_017020912.1:c.891G>AP [CCG]> P [CCA]Coding Sequence Variant
poly [ADP-ribose] polymerase 2 isoform X2XP_016876401.1:p....XP_016876401.1:p.Pro297=P [Pro]> P [Pro]Synonymous Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.798A=0.202
1000GenomesAmericanSub694G=0.980A=0.020
1000GenomesEast AsianSub1008G=1.000A=0.000
1000GenomesEuropeSub1006G=0.994A=0.006
1000GenomesGlobalStudy-wide5008G=0.942A=0.058
1000GenomesSouth AsianSub978G=0.990A=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.995A=0.005
The Exome Aggregation ConsortiumAmericanSub21360G=0.907A=0.092
The Exome Aggregation ConsortiumAsianSub24190G=0.996A=0.003
The Exome Aggregation ConsortiumEuropeSub72862G=0.994A=0.005
The Exome Aggregation ConsortiumGlobalStudy-wide119300G=0.979A=0.020
The Exome Aggregation ConsortiumOtherSub888G=0.980A=0.020
The Genome Aggregation DatabaseAfricanSub8700G=0.809A=0.191
The Genome Aggregation DatabaseAmericanSub838G=0.980A=0.020
The Genome Aggregation DatabaseEast AsianSub1622G=0.999A=0.001
The Genome Aggregation DatabaseEuropeSub18498G=0.996A=0.003
The Genome Aggregation DatabaseGlobalStudy-wide29960G=0.941A=0.058
The Genome Aggregation DatabaseOtherSub302G=0.990A=0.010
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.915A=0.085
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.995A=0.005
PMID Title Author Journal
18518984Genome-wide survey of allele-specific splicing in humans.Nembaware VBMC Genomics

P-Value

SNP ID p-value Traits Study
rs30939271.38E-11alcohol consumptionpha001402

eQTL of rs3093927 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 rs3093927 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 )
chr142079529620796061E067-27034
chr142079612620796197E067-26898
chr142081292320812967E068-10128
chr142081306520813247E068-9848
chr142081339420813493E068-9602
chr142086874220868832E06845647
chr142086893720869070E06845842
chr142086915320869694E06846058
chr142079529620796061E069-27034
chr142079612620796197E069-26898
chr142081292320812967E069-10128
chr142081306520813247E070-9848
chr142081339420813493E070-9602
chr142081351020813602E070-9493
chr142081292320812967E071-10128
chr142081292320812967E081-10128
chr142081306520813247E081-9848






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr142077342820774514E067-48581
chr142080048120802047E067-21048
chr142081048220812764E067-10331
chr142077342820774514E068-48581
chr142080048120802047E068-21048
chr142080994820810426E068-12669
chr142081048220812764E068-10331
chr142077342820774514E069-48581
chr142080048120802047E069-21048
chr142081048220812764E069-10331
chr142077342820774514E070-48581
chr142080048120802047E070-21048
chr142080994820810426E070-12669
chr142081048220812764E070-10331
chr142077342820774514E071-48581
chr142080048120802047E071-21048
chr142080994820810426E071-12669
chr142081048220812764E071-10331
chr142077342820774514E072-48581
chr142080048120802047E072-21048
chr142080994820810426E072-12669
chr142081048220812764E072-10331
chr142077342820774514E073-48581
chr142080048120802047E073-21048
chr142081048220812764E073-10331
chr142077342820774514E074-48581
chr142080048120802047E074-21048
chr142081048220812764E074-10331
chr142080048120802047E081-21048
chr142081048220812764E081-10331
chr142077342820774514E082-48581
chr142080048120802047E082-21048
chr142080994820810426E082-12669
chr142081048220812764E082-10331