rs7782816

Homo sapiens
C>T
NXPH1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0064 (1938/29924,GnomAD)
T=0064 (1890/29118,TOPMED)
T=0102 (510/5008,1000G)
T=0002 (6/3854,ALSPAC)
T=0001 (4/3708,TWINSUK)
chr7:8700732 (GRCh38.p7) (7p21.3)
AD
GWASdb2
1   publication(s)
See rs on genome
27 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.8700732C>T
GRCh37.p13 chr 7NC_000007.13:g.8740362C>T

Gene: NXPH1, neurexophilin 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
NXPH1 transcriptNM_152745.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.836T=0.164
1000GenomesAmericanSub694C=0.900T=0.100
1000GenomesEast AsianSub1008C=0.825T=0.175
1000GenomesEuropeSub1006C=0.985T=0.015
1000GenomesGlobalStudy-wide5008C=0.898T=0.102
1000GenomesSouth AsianSub978C=0.960T=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.998T=0.002
The Genome Aggregation DatabaseAfricanSub8720C=0.865T=0.135
The Genome Aggregation DatabaseAmericanSub834C=0.940T=0.060
The Genome Aggregation DatabaseEast AsianSub1608C=0.813T=0.187
The Genome Aggregation DatabaseEuropeSub18460C=0.978T=0.021
The Genome Aggregation DatabaseGlobalStudy-wide29924C=0.935T=0.064
The Genome Aggregation DatabaseOtherSub302C=1.000T=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.935T=0.064
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.999T=0.001
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
rs77828160.000205alcohol consumption (maxi-drinks)24277619

eQTL of rs7782816 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 rs7782816 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 )
chr787625588762612E06722196
chr787626258762675E06722263
chr787627228762923E06722360
chr787625588762612E06922196
chr787626258762675E06922263
chr787627228762923E06922360
chr787635228763611E06923160
chr787637148764214E06923352
chr787643338764405E06923971
chr787645368764639E06924174
chr787868128786859E06946450
chr787871058787179E06946743
chr787871858787295E06946823
chr787619268762104E07021564
chr787621168762166E07021754
chr787623558762405E07021993
chr787625588762612E07022196
chr787626258762675E07022263
chr787627228762923E07022360
chr787635228763611E07023160
chr787623558762405E07121993
chr787625588762612E07122196
chr787626258762675E07122263
chr787627228762923E07122360
chr787625588762612E07422196
chr787626258762675E07422263
chr787627228762923E07422360