rs1950419

Homo sapiens
T>C
NOVA1-AS1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0119 (3580/29944,GnomAD)
C=0136 (3976/29118,TOPMED)
C=0169 (847/5008,1000G)
C=0069 (266/3854,ALSPAC)
C=0076 (280/3708,TWINSUK)
chr14:26684854 (GRCh38.p7) (14q12)
AD
GWASdb2
1   publication(s)
See rs on genome
8 Enhancers around
3 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.26684854T>C
GRCh37.p13 chr 14NC_000014.8:g.27154060T>C

Gene: NOVA1-AS1, uncharacterized NOVA1-AS1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
NOVA1-AS1 transcript variant X5XR_001750675.1:n.N/AIntron Variant
NOVA1-AS1 transcript variant X6XR_001750676.1:n.N/AIntron Variant
NOVA1-AS1 transcript variant X7XR_001750677.1:n.N/AIntron Variant
NOVA1-AS1 transcript variant X8XR_001750678.1:n.N/AIntron Variant
NOVA1-AS1 transcript variant X9XR_001750679.1:n.N/AIntron Variant
NOVA1-AS1 transcript variant X10XR_001750680.1:n.N/AIntron Variant
NOVA1-AS1 transcript variant X12XR_001750682.1:n.N/AIntron Variant
NOVA1-AS1 transcript variant X14XR_001750683.1:n.N/AIntron Variant
NOVA1-AS1 transcript variant X15XR_001750684.1:n.N/AIntron Variant
NOVA1-AS1 transcript variant X17XR_001750685.1:n.N/AIntron Variant
NOVA1-AS1 transcript variant X4XR_943641.1:n.N/AIntron Variant
NOVA1-AS1 transcript variant X1XR_943642.1:n.N/AIntron Variant
NOVA1-AS1 transcript variant X3XR_943643.2:n.N/AIntron Variant
NOVA1-AS1 transcript variant X2XR_943644.2:n.N/AIntron Variant
NOVA1-AS1 transcript variant X11XR_943652.1:n.N/AIntron Variant
NOVA1-AS1 transcript variant X18XR_943657.1:n.N/AIntron Variant
NOVA1-AS1 transcript variant X13XR_943653.2:n.N/AGenic Downstream Transcript Variant
NOVA1-AS1 transcript variant X16XR_943656.2:n.N/AGenic Downstream Transcript Variant
NOVA1-AS1 transcript variant X19XR_943658.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.751C=0.249
1000GenomesAmericanSub694T=0.950C=0.050
1000GenomesEast AsianSub1008T=0.839C=0.161
1000GenomesEuropeSub1006T=0.926C=0.074
1000GenomesGlobalStudy-wide5008T=0.831C=0.169
1000GenomesSouth AsianSub978T=0.750C=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.931C=0.069
The Genome Aggregation DatabaseAfricanSub8714T=0.780C=0.220
The Genome Aggregation DatabaseAmericanSub836T=0.950C=0.050
The Genome Aggregation DatabaseEast AsianSub1622T=0.872C=0.128
The Genome Aggregation DatabaseEuropeSub18470T=0.924C=0.075
The Genome Aggregation DatabaseGlobalStudy-wide29944T=0.880C=0.119
The Genome Aggregation DatabaseOtherSub302T=0.920C=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.863C=0.136
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.924C=0.076
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
rs19504190.000152alcohol consumption (maxi-drinks)24277619

eQTL of rs1950419 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 rs1950419 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 )
chr142710708327107133E067-46927
chr142716408327164189E07110023
chr142716408327164189E07410023
chr142716428827164342E07410228
chr142710639227106466E081-47594
chr142717247427172809E08118414
chr142717296027173192E08118900
chr142710639227106466E082-47594





Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr142710585027106271E067-47789
chr142710585027106271E068-47789
chr142710585027106271E071-47789