rs7159831

Homo sapiens
G>A
GPHN : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0084 (2533/29956,GnomAD)
A=0060 (1762/29118,TOPMED)
A=0028 (142/5008,1000G)
A=0115 (444/3854,ALSPAC)
A=0117 (435/3708,TWINSUK)
chr14:66562315 (GRCh38.p7) (14q23.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.66562315G>A
GRCh37.p13 chr 14NC_000014.8:g.67029033G>A
GPHN RefSeqGeneNG_008875.1:g.59909G>A

Gene: GPHN, gephyrin(plus strand)

Molecule type Change Amino acid[Codon] SO Term
GPHN transcript variant 2NM_001024218.1:c.N/AIntron Variant
GPHN transcript variant 1NM_020806.4:c.N/AIntron Variant
GPHN transcript variant X14XM_005267254.3:c.N/AIntron Variant
GPHN transcript variant X1XM_011536340.2:c.N/AIntron Variant
GPHN transcript variant X3XM_011536342.2:c.N/AIntron Variant
GPHN transcript variant X5XM_011536343.2:c.N/AIntron Variant
GPHN transcript variant X6XM_011536344.2:c.N/AIntron Variant
GPHN transcript variant X8XM_011536345.2:c.N/AIntron Variant
GPHN transcript variant X9XM_011536346.2:c.N/AIntron Variant
GPHN transcript variant X15XM_011536347.2:c.N/AIntron Variant
GPHN transcript variant X2XM_017020913.1:c.N/AIntron Variant
GPHN transcript variant X4XM_017020914.1:c.N/AIntron Variant
GPHN transcript variant X7XM_017020915.1:c.N/AIntron Variant
GPHN transcript variant X10XM_017020916.1:c.N/AIntron Variant
GPHN transcript variant X11XM_017020917.1:c.N/AIntron Variant
GPHN transcript variant X12XM_017020918.1:c.N/AIntron Variant
GPHN transcript variant X13XM_017020919.1:c.N/AIntron Variant
GPHN transcript variant X16XM_017020920.1:c.N/AIntron Variant
GPHN transcript variant X17XM_017020921.1:c.N/AIntron Variant
GPHN transcript variant X18XM_017020922.1:c.N/AIntron Variant
GPHN transcript variant X19XM_017020923.1:c.N/AIntron Variant
GPHN transcript variant X20XM_017020924.1:c.N/AIntron Variant
GPHN transcript variant X21XM_017020925.1:c.N/AIntron Variant
GPHN transcript variant X22XM_017020926.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.997A=0.003
1000GenomesAmericanSub694G=0.960A=0.040
1000GenomesEast AsianSub1008G=0.999A=0.001
1000GenomesEuropeSub1006G=0.906A=0.094
1000GenomesGlobalStudy-wide5008G=0.972A=0.028
1000GenomesSouth AsianSub978G=0.990A=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.885A=0.115
The Genome Aggregation DatabaseAfricanSub8732G=0.980A=0.020
The Genome Aggregation DatabaseAmericanSub836G=0.950A=0.050
The Genome Aggregation DatabaseEast AsianSub1612G=1.000A=0.000
The Genome Aggregation DatabaseEuropeSub18474G=0.875A=0.124
The Genome Aggregation DatabaseGlobalStudy-wide29956G=0.915A=0.084
The Genome Aggregation DatabaseOtherSub302G=0.960A=0.040
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.939A=0.060
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.883A=0.117
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
rs71598310.00089alcohol dependence20201924

eQTL of rs7159831 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 rs7159831 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 )
chr146703165067031700E0672617
chr146700681367006872E068-22161
chr146700691967007069E068-21964
chr146700588967005948E069-23085
chr146700598667006043E069-22990
chr146700681367006872E069-22161
chr146700691967007069E069-21964
chr146700588967005948E071-23085
chr146700598667006043E071-22990
chr146700681367006872E071-22161
chr146700691967007069E071-21964
chr146700852467008578E071-20455
chr146707370567073959E07144672
chr146707419267074272E07145159
chr146700588967005948E072-23085
chr146700598667006043E072-22990
chr146700681367006872E072-22161
chr146700691967007069E072-21964
chr146700681367006872E073-22161
chr146700691967007069E073-21964
chr146700588967005948E074-23085
chr146700598667006043E074-22990
chr146700681367006872E074-22161
chr146700691967007069E074-21964
chr146700852467008578E074-20455