rs2036535

Homo sapiens
G>A
ASIC2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0449 (13444/29906,GnomAD)
A=0400 (11663/29118,TOPMED)
A=0497 (2488/5008,1000G)
A=0465 (1791/3854,ALSPAC)
A=0467 (1731/3708,TWINSUK)
chr17:33423995 (GRCh38.p7) (17q11.2)
ND
GWASdb2
2   publication(s)
See rs on genome
12 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.33423995G>A
GRCh37.p13 chr 17NC_000017.10:g.31751013G>A
ASIC2 RefSeqGeneNG_029763.1:g.737813C>T

Gene: ASIC2, acid sensing ion channel subunit 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ASIC2 transcript variant MDEG1NM_001094.4:c.N/AIntron Variant
ASIC2 transcript variant MDEG2NM_183377.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.709A=0.291
1000GenomesAmericanSub694G=0.460A=0.540
1000GenomesEast AsianSub1008G=0.213A=0.787
1000GenomesEuropeSub1006G=0.488A=0.512
1000GenomesGlobalStudy-wide5008G=0.503A=0.497
1000GenomesSouth AsianSub978G=0.570A=0.430
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.535A=0.465
The Genome Aggregation DatabaseAfricanSub8694G=0.686A=0.314
The Genome Aggregation DatabaseAmericanSub836G=0.490A=0.510
The Genome Aggregation DatabaseEast AsianSub1614G=0.273A=0.727
The Genome Aggregation DatabaseEuropeSub18460G=0.516A=0.484
The Genome Aggregation DatabaseGlobalStudy-wide29906G=0.550A=0.449
The Genome Aggregation DatabaseOtherSub302G=0.410A=0.590
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.599A=0.400
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.533A=0.467
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet
17357082Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms.Melquist SAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs20365350.000407nicotine smoking19268276

eQTL of rs2036535 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 rs2036535 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 )
chr173173785631737980E070-13033
chr173173815831738563E070-12450
chr173173878431738890E070-12123
chr173172793931728246E081-22767
chr173172839131728540E081-22473
chr173177955431779752E08128541
chr173177980331780192E08128790
chr173173785631737980E082-13033
chr173173815831738563E082-12450
chr173178643931786483E08235426
chr173178651531786699E08235502
chr173178675731786894E08235744