rs17641137

Homo sapiens
C>T
PRKG1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0179 (5369/29920,GnomAD)
T=0154 (4484/29118,TOPMED)
T=0143 (716/5008,1000G)
T=0206 (792/3854,ALSPAC)
T=0218 (807/3708,TWINSUK)
chr10:52046842 (GRCh38.p7) (10q21.1)
AD | ND
GWASdb2
2   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.52046842C>T
GRCh37.p13 chr 10NC_000010.10:g.53806602C>T
PRKG1 RefSeqGene LRG_1135

Gene: PRKG1, protein kinase, cGMP-dependent, type I(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PRKG1 transcript variant 1NM_001098512.2:c.N/AIntron Variant
PRKG1 transcript variant 2NM_006258.3:c.N/AIntron Variant
PRKG1 transcript variant X3XM_011539952.2:c.N/AIntron Variant
PRKG1 transcript variant X1XM_017016412.1:c.N/AIntron Variant
PRKG1 transcript variant X2XM_017016413.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.953T=0.047
1000GenomesAmericanSub694C=0.660T=0.340
1000GenomesEast AsianSub1008C=0.955T=0.045
1000GenomesEuropeSub1006C=0.783T=0.217
1000GenomesGlobalStudy-wide5008C=0.857T=0.143
1000GenomesSouth AsianSub978C=0.840T=0.160
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.794T=0.206
The Genome Aggregation DatabaseAfricanSub8722C=0.929T=0.071
The Genome Aggregation DatabaseAmericanSub834C=0.670T=0.330
The Genome Aggregation DatabaseEast AsianSub1612C=0.974T=0.026
The Genome Aggregation DatabaseEuropeSub18450C=0.762T=0.237
The Genome Aggregation DatabaseGlobalStudy-wide29920C=0.820T=0.179
The Genome Aggregation DatabaseOtherSub302C=0.820T=0.180
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.846T=0.154
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.782T=0.218
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs176411370.000233nicotine smoking19268276
rs176411370.000535alcohol dependence20201924

eQTL of rs17641137 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 rs17641137 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.