rs10890597

Homo sapiens
A>G
GUCY1A2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0076 (2304/29976,GnomAD)
A==0091 (2666/29118,TOPMED)
A==0078 (392/5008,1000G)
A==0084 (323/3854,ALSPAC)
A==0103 (383/3708,TWINSUK)
chr11:106804584 (GRCh38.p7) (11q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
21 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.106804584A>G
GRCh37.p13 chr 11NC_000011.9:g.106675310A>G

Gene: GUCY1A2, guanylate cyclase 1, soluble, alpha 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
GUCY1A2 transcript variant 2NM_000855.2:c.N/AIntron Variant
GUCY1A2 transcript variant 1NM_001256424.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.078G=0.922
1000GenomesAmericanSub694A=0.050G=0.950
1000GenomesEast AsianSub1008A=0.004G=0.996
1000GenomesEuropeSub1006A=0.083G=0.917
1000GenomesGlobalStudy-wide5008A=0.078G=0.922
1000GenomesSouth AsianSub978A=0.170G=0.830
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.084G=0.916
The Genome Aggregation DatabaseAfricanSub8724A=0.090G=0.910
The Genome Aggregation DatabaseAmericanSub838A=0.060G=0.940
The Genome Aggregation DatabaseEast AsianSub1616A=0.003G=0.997
The Genome Aggregation DatabaseEuropeSub18496A=0.078G=0.922
The Genome Aggregation DatabaseGlobalStudy-wide29976A=0.076G=0.923
The Genome Aggregation DatabaseOtherSub302A=0.070G=0.930
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.091G=0.908
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.103G=0.897
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs108905970.000931alcohol dependence21314694

eQTL of rs10890597 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 rs10890597 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 )
chr11106657030106657206E068-18104
chr11106657394106657530E068-17780
chr11106636277106636463E070-38847
chr11106636547106636960E070-38350
chr11106641011106641088E070-34222
chr11106641461106641705E070-33605
chr11106642406106642456E070-32854
chr11106643380106643644E070-31666
chr11106644241106644291E070-31019
chr11106644310106644435E070-30875
chr11106657030106657206E070-18104
chr11106657394106657530E070-17780
chr11106641011106641088E081-34222
chr11106657030106657206E081-18104
chr11106657394106657530E081-17780
chr11106677195106677235E0811885
chr11106636041106636202E082-39108
chr11106636277106636463E082-38847
chr11106636547106636960E082-38350
chr11106657030106657206E082-18104
chr11106657394106657530E082-17780