rs8125955

Homo sapiens
A>C
GNRH2 : 5 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0148 (4434/29944,GnomAD)
C=0180 (5254/29118,TOPMED)
C=0135 (674/5008,1000G)
C=0128 (494/3854,ALSPAC)
C=0131 (486/3708,TWINSUK)
chr20:3039311 (GRCh38.p7) (20p13)
AD
GWASdb2
1   publication(s)
See rs on genome
29 Enhancers around
23 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.3039311A>C
GRCh37.p13 chr 20NC_000020.10:g.3019957A>C

Gene: GNRH2, gonadotropin-releasing hormone 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
GNRH2 transcript variant 4NM_001310220.1:c.N/AGenic Upstream Transcript Variant
GNRH2 transcript variant 1NM_001501.1:c.N/AGenic Upstream Transcript Variant
GNRH2 transcript variant 3NM_178331.1:c.N/AGenic Upstream Transcript Variant
GNRH2 transcript variant 2NM_178332.1:c.N/AGenic Upstream Transcript Variant
GNRH2 transcript variant X1XM_017027823.1:c.N/A5 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.706C=0.294
1000GenomesAmericanSub694A=0.910C=0.090
1000GenomesEast AsianSub1008A=0.989C=0.011
1000GenomesEuropeSub1006A=0.893C=0.107
1000GenomesGlobalStudy-wide5008A=0.865C=0.135
1000GenomesSouth AsianSub978A=0.900C=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.872C=0.128
The Genome Aggregation DatabaseAfricanSub8700A=0.729C=0.271
The Genome Aggregation DatabaseAmericanSub838A=0.890C=0.110
The Genome Aggregation DatabaseEast AsianSub1622A=1.000C=0.000
The Genome Aggregation DatabaseEuropeSub18482A=0.894C=0.105
The Genome Aggregation DatabaseGlobalStudy-wide29944A=0.851C=0.148
The Genome Aggregation DatabaseOtherSub302A=0.860C=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.819C=0.180
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.869C=0.131
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
rs81259550.00074alcohol dependence20201924

eQTL of rs8125955 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 rs8125955 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 )
chr2029986212998681E067-21276
chr2030221783023975E0672221
chr2030254083025637E0675451
chr2030281343028563E0678177
chr2030616893061775E06741732
chr2030618003062007E06741843
chr2030281343028563E0688177
chr2030221783023975E0692221
chr2030254083025637E0695451
chr2030286253028681E0698668
chr2030287333028982E0698776
chr2030616893061775E06941732
chr2030618003062007E06941843
chr2030221783023975E0712221
chr2030281343028563E0718177
chr2030140773014177E072-5780
chr2030254083025637E0725451
chr2030221783023975E0732221
chr2030254083025637E0735451
chr2030281343028563E0738177
chr2030286253028681E0738668
chr2030287333028982E0738776
chr2030616893061775E07341732
chr2030618003062007E07341843
chr2030254083025637E0745451
chr2030616893061775E07441732
chr2030281343028563E0818177
chr2030254083025637E0825451
chr2030537613053854E08233804









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2030256583027840E0675701
chr2030256583027840E0685701
chr2030523223053358E06832365
chr2030629433063003E06842986
chr2030630203063106E06843063
chr2030631643063480E06843207
chr2030256583027840E0695701
chr2030256583027840E0705701
chr2030631643063480E07043207
chr2030636323063770E07043675
chr2030256583027840E0715701
chr2030631643063480E07143207
chr2030636323063770E07143675
chr2030256583027840E0725701
chr2030523223053358E07232365
chr2030256583027840E0735701
chr2030256583027840E0745701
chr2030256583027840E0825701
chr2030523223053358E08232365
chr2030629433063003E08242986
chr2030630203063106E08243063
chr2030631643063480E08243207
chr2030636323063770E08243675