rs4709595

Homo sapiens
G>T
PARK2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0381 (11424/29918,GnomAD)
T=0365 (10640/29118,TOPMED)
T=0335 (1678/5008,1000G)
G==0472 (1818/3854,ALSPAC)
G==0446 (1655/3708,TWINSUK)
chr6:162308349 (GRCh38.p7) (6q26)
ND
GWASdb2
1   publication(s)
See rs on genome
48 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.162308349G>T
GRCh37.p13 chr 6NC_000006.11:g.162729381G>T
PARK2 RefSeqGeneNG_008289.1:g.424454C>A

Gene: PARK2, parkin RBR E3 ubiquitin protein ligase(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PRKN transcript variant 1NM_004562.2:c.N/AIntron Variant
PRKN transcript variant 2NM_013987.2:c.N/AIntron Variant
PRKN transcript variant 3NM_013988.2:c.N/AIntron Variant
PRKN transcript variant X2XM_011535863.1:c.N/AIntron Variant
PRKN transcript variant X1XM_017010908.1:c.N/AIntron Variant
PARK2 transcript variant X3XM_017010909.1:c.N/AIntron Variant
PARK2 transcript variant X4XR_001743443.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.887T=0.113
1000GenomesAmericanSub694G=0.550T=0.450
1000GenomesEast AsianSub1008G=0.761T=0.239
1000GenomesEuropeSub1006G=0.499T=0.501
1000GenomesGlobalStudy-wide5008G=0.665T=0.335
1000GenomesSouth AsianSub978G=0.520T=0.480
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.472T=0.528
The Genome Aggregation DatabaseAfricanSub8714G=0.843T=0.157
The Genome Aggregation DatabaseAmericanSub836G=0.550T=0.450
The Genome Aggregation DatabaseEast AsianSub1618G=0.774T=0.226
The Genome Aggregation DatabaseEuropeSub18448G=0.503T=0.496
The Genome Aggregation DatabaseGlobalStudy-wide29918G=0.618T=0.381
The Genome Aggregation DatabaseOtherSub302G=0.490T=0.510
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.634T=0.365
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.446T=0.554
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs47095950.000401nicotine smoking19268276

eQTL of rs4709595 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 rs4709595 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 )
chr6162711148162711284E067-18097
chr6162711685162712484E067-16897
chr6162764895162766637E06735514
chr6162685699162685873E068-43508
chr6162685887162685964E068-43417
chr6162686009162686132E068-43249
chr6162711148162711284E068-18097
chr6162711368162711481E068-17900
chr6162711685162712484E068-16897
chr6162715044162715176E068-14205
chr6162715180162715301E068-14080
chr6162715344162715702E068-13679
chr6162718224162718329E068-11052
chr6162711148162711284E069-18097
chr6162711368162711481E069-17900
chr6162711685162712484E069-16897
chr6162764360162764507E06934979
chr6162764636162764766E06935255
chr6162715044162715176E070-14205
chr6162715180162715301E070-14080
chr6162715344162715702E070-13679
chr6162711685162712484E071-16897
chr6162714696162714801E071-14580
chr6162715180162715301E071-14080
chr6162720103162720153E071-9228
chr6162720180162720240E071-9141
chr6162764360162764507E07134979
chr6162764636162764766E07135255
chr6162764895162766637E07135514
chr6162711148162711284E072-18097
chr6162711368162711481E072-17900
chr6162711685162712484E072-16897
chr6162764895162766637E07235514
chr6162702979162703156E074-26225
chr6162710281162710335E074-19046
chr6162711685162712484E074-16897
chr6162719248162719298E074-10083
chr6162719375162719425E074-9956
chr6162764895162766637E07435514
chr6162714577162714672E081-14709
chr6162714696162714801E081-14580
chr6162716091162716291E081-13090
chr6162745987162746598E08116606
chr6162764636162764766E08135255
chr6162764895162766637E08135514
chr6162715180162715301E082-14080
chr6162715344162715702E082-13679
chr6162716091162716291E082-13090