rs1391875

Homo sapiens
G>C
GRM5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0216 (6468/29846,GnomAD)
C=0210 (6141/29118,TOPMED)
C=0167 (836/5008,1000G)
C=0280 (1079/3854,ALSPAC)
C=0260 (965/3708,TWINSUK)
chr11:88714478 (GRCh38.p7) (11q14.3)
AD
GWASdb2
1   publication(s)
See rs on genome
22 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.88714478G>C
GRCh37.p13 chr 11NC_000011.9:g.88447646G>C

Gene: GRM5, glutamate metabotropic receptor 5(minus strand)

Molecule type Change Amino acid[Codon] SO Term
GRM5 transcript variant bNM_000842.4:c.N/AIntron Variant
GRM5 transcript variant aNM_001143831.2:c.N/AIntron Variant
GRM5 transcript variant X1XM_006718828.3:c.N/AIntron Variant
GRM5 transcript variant X2XM_011542792.1:c.N/AIntron Variant
GRM5 transcript variant X3XM_017017627.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.836C=0.164
1000GenomesAmericanSub694G=0.790C=0.210
1000GenomesEast AsianSub1008G=0.874C=0.126
1000GenomesEuropeSub1006G=0.738C=0.262
1000GenomesGlobalStudy-wide5008G=0.833C=0.167
1000GenomesSouth AsianSub978G=0.920C=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.720C=0.280
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.789C=0.210
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.740C=0.260
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
rs13918750.000603alcohol dependence21314694

eQTL of rs1391875 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 rs1391875 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 )
chr118844248588442529E067-5117
chr118844265488443253E067-4393
chr118844248588442529E068-5117
chr118844265488443253E068-4393
chr118844332888443630E068-4016
chr118844248588442529E069-5117
chr118844265488443253E069-4393
chr118844332888443630E069-4016
chr118844248588442529E071-5117
chr118844265488443253E071-4393
chr118844332888443630E071-4016
chr118844248588442529E072-5117
chr118844265488443253E072-4393
chr118844248588442529E073-5117
chr118844265488443253E073-4393
chr118844248588442529E074-5117
chr118844265488443253E074-4393
chr118844332888443630E074-4016
chr118844265488443253E081-4393
chr118844889488449236E0811248
chr118844928188449331E0811635
chr118845416988454321E0816523