rs10490975

Homo sapiens
G>A / G>T
PRKG1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0186 (5566/29924,GnomAD)
T=0275 (8008/29118,TOPMED)
T=0203 (1016/5008,1000G)
T=0065 (249/3854,ALSPAC)
T=0067 (247/3708,TWINSUK)
chr10:51261176 (GRCh38.p7) (10q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
8 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.51261176G>A
GRCh38.p7 chr 10NC_000010.11:g.51261176G>T
GRCh37.p13 chr 10NC_000010.10:g.53020936G>A
GRCh37.p13 chr 10NC_000010.10:g.53020936G>T
PRKG1 RefSeqGene LRG_1135
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
1000GenomesAfricanSub1322G=0.448T=0.552
1000GenomesAmericanSub694G=0.850T=0.150
1000GenomesEast AsianSub1008G=0.993T=0.007
1000GenomesEuropeSub1006G=0.915T=0.085
1000GenomesGlobalStudy-wide5008G=0.797T=0.203
1000GenomesSouth AsianSub978G=0.910T=0.090
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.935T=0.065
The Genome Aggregation DatabaseAfricanSub8714G=0.512A=0.000
The Genome Aggregation DatabaseAmericanSub836G=0.920A=0.00,
The Genome Aggregation DatabaseEast AsianSub1620G=0.995A=0.000
The Genome Aggregation DatabaseEuropeSub18452G=0.934A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29924G=0.814A=0.000
The Genome Aggregation DatabaseOtherSub302G=0.910A=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.725T=0.275
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.933T=0.067
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
rs104909750.000721alcohol dependence20201924

eQTL of rs10490975 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 rs10490975 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 )
chr107477774574778283E067964
chr107477838874778726E0671607
chr107477885874778992E0672077
chr107477838874778726E0691607
chr107477885874778992E0692077
chr107477901974779069E0692238
chr107477838874778726E0711607
chr107477885874778992E0712077