rs7080306

Homo sapiens
C>T
PRKG1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0137 (4125/29912,GnomAD)
T=0180 (5245/29118,TOPMED)
T=0132 (660/5008,1000G)
T=0067 (260/3854,ALSPAC)
T=0074 (273/3708,TWINSUK)
chr10:51854153 (GRCh38.p7) (10q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
18 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.51854153C>T
GRCh37.p13 chr 10NC_000010.10:g.53613913C>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=0.654T=0.346
1000GenomesAmericanSub694C=0.910T=0.090
1000GenomesEast AsianSub1008C=0.988T=0.012
1000GenomesEuropeSub1006C=0.944T=0.056
1000GenomesGlobalStudy-wide5008C=0.868T=0.132
1000GenomesSouth AsianSub978C=0.930T=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.933T=0.067
The Genome Aggregation DatabaseAfricanSub8702C=0.676T=0.324
The Genome Aggregation DatabaseAmericanSub838C=0.880T=0.120
The Genome Aggregation DatabaseEast AsianSub1618C=0.994T=0.006
The Genome Aggregation DatabaseEuropeSub18454C=0.936T=0.063
The Genome Aggregation DatabaseGlobalStudy-wide29912C=0.862T=0.137
The Genome Aggregation DatabaseOtherSub300C=0.920T=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.819T=0.180
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.926T=0.074
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
rs70803060.0000957alcoholismpha002891
rs70803060.0000957alcohol dependence20201924

eQTL of rs7080306 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 rs7080306 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 )
chr105361979353619916E0675880
chr105361996353620456E0676050
chr105359264653593162E068-20751
chr105361715653617442E0683243
chr105361979353619916E0685880
chr105361996353620456E0686050
chr105359264653593162E069-20751
chr105363840153639619E06924488
chr105361715653617442E0713243
chr105363840153639619E07124488
chr105359264653593162E072-20751
chr105361715653617442E0723243
chr105359264653593162E074-20751
chr105361715653617442E0743243
chr105361979353619916E0745880
chr105361996353620456E0746050
chr105362050053620584E0746587
chr105356623753566477E081-47436