rs767755

Homo sapiens
G>A
PRKCH : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0306 (9171/29894,GnomAD)
G==0339 (9891/29118,TOPMED)
G==0347 (1736/5008,1000G)
G==0280 (1078/3854,ALSPAC)
G==0289 (1072/3708,TWINSUK)
chr14:61407730 (GRCh38.p7) (14q23.1)
AD
GWASdb2
1   publication(s)
See rs on genome
34 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.61407730G>A
GRCh37.p13 chr 14NC_000014.8:g.61874448G>A
PRKCH RefSeqGeneNG_011514.1:g.90934G>A

Gene: PRKCH, protein kinase C eta(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PRKCH transcriptNM_006255.4:c.N/AIntron Variant
PRKCH transcript variant X1XM_011536954.2:c.N/AIntron Variant
PRKCH transcript variant X2XM_011536955.1:c.N/AIntron Variant
PRKCH transcript variant X3XM_011536956.1:c.N/AIntron Variant
PRKCH transcript variant X7XM_011536957.1:c.N/AIntron Variant
PRKCH transcript variant X5XM_017021458.1:c.N/AIntron Variant
PRKCH transcript variant X8XM_017021459.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.453A=0.547
1000GenomesAmericanSub694G=0.390A=0.610
1000GenomesEast AsianSub1008G=0.208A=0.792
1000GenomesEuropeSub1006G=0.280A=0.720
1000GenomesGlobalStudy-wide5008G=0.347A=0.653
1000GenomesSouth AsianSub978G=0.380A=0.620
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.280A=0.720
The Genome Aggregation DatabaseAfricanSub8682G=0.405A=0.595
The Genome Aggregation DatabaseAmericanSub832G=0.380A=0.620
The Genome Aggregation DatabaseEast AsianSub1616G=0.200A=0.800
The Genome Aggregation DatabaseEuropeSub18462G=0.265A=0.734
The Genome Aggregation DatabaseGlobalStudy-wide29894G=0.306A=0.693
The Genome Aggregation DatabaseOtherSub302G=0.340A=0.660
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.339A=0.660
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.289A=0.711
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs7677550.000149alcohol dependence24277619

eQTL of rs767755 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 rs767755 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 )
chr146185312461853345E068-21103
chr146185337261853508E068-20940
chr146185352961853622E068-20826
chr146185480461856284E068-18164
chr146188496361885160E06810515
chr146188517761885329E06810729
chr146188651061886735E06812062
chr146188677161887599E06812323
chr146190644861906583E06832000
chr146190664761906727E06832199
chr146190679861906878E06832350
chr146188677161887599E06912323
chr146191559861915648E07041150
chr146191576761915912E07041319
chr146191594061915990E07041492
chr146191603061916155E07041582
chr146188377861883836E0719330
chr146188383961883883E0719391
chr146188392261884280E0719474
chr146188533861886309E07110890
chr146188634961886498E07111901
chr146188651061886735E07112062
chr146188677161887599E07112323
chr146190664761906727E07132199
chr146190679861906878E07132350
chr146188677161887599E07212323
chr146190644861906583E07232000
chr146188651061886735E07312062
chr146186672861866959E074-7489
chr146188496361885160E07410515
chr146188517761885329E07410729
chr146188533861886309E07410890
chr146188651061886735E07412062
chr146188677161887599E07412323