rs1937701

Homo sapiens
C>T
PRKG1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0302 (9047/29898,GnomAD)
T=0397 (11585/29118,TOPMED)
T=0281 (1409/5008,1000G)
T=0186 (718/3854,ALSPAC)
T=0200 (742/3708,TWINSUK)
chr10:51849217 (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.51849217C>T
GRCh37.p13 chr 10NC_000010.10:g.53608977C>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=0.285T=0.715
1000GenomesAmericanSub694C=0.790T=0.210
1000GenomesEast AsianSub1008C=0.984T=0.016
1000GenomesEuropeSub1006C=0.818T=0.182
1000GenomesGlobalStudy-wide5008C=0.719T=0.281
1000GenomesSouth AsianSub978C=0.880T=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.814T=0.186
The Genome Aggregation DatabaseAfricanSub8698C=0.356T=0.644
The Genome Aggregation DatabaseAmericanSub838C=0.780T=0.220
The Genome Aggregation DatabaseEast AsianSub1614C=0.988T=0.012
The Genome Aggregation DatabaseEuropeSub18446C=0.827T=0.172
The Genome Aggregation DatabaseGlobalStudy-wide29898C=0.697T=0.302
The Genome Aggregation DatabaseOtherSub302C=0.800T=0.200
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.602T=0.397
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.800T=0.200
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
rs19377010.000151alcohol dependence20201924

eQTL of rs1937701 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 rs1937701 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 )
chr105361979353619916E06710816
chr105361996353620456E06710986
chr105359264653593162E068-15815
chr105361715653617442E0688179
chr105361979353619916E06810816
chr105361996353620456E06810986
chr105359264653593162E069-15815
chr105363840153639619E06929424
chr105361715653617442E0718179
chr105363840153639619E07129424
chr105359264653593162E072-15815
chr105361715653617442E0728179
chr105359264653593162E074-15815
chr105361715653617442E0748179
chr105361979353619916E07410816
chr105361996353620456E07410986
chr105362050053620584E07411523
chr105356623753566477E081-42500