rs10496950

Homo sapiens
C>G
ARHGAP15 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0243 (7279/29918,GnomAD)
G=0226 (6606/29118,TOPMED)
G=0157 (786/5008,1000G)
G=0329 (1268/3854,ALSPAC)
G=0314 (1166/3708,TWINSUK)
chr2:143615404 (GRCh38.p7) (2q22.3)
ND
GWASdb2
1   publication(s)
See rs on genome
80 Enhancers around
6 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.143615404C>G
GRCh37.p13 chr 2NC_000002.11:g.144372973C>G

Gene: ARHGAP15, Rho GTPase activating protein 15(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ARHGAP15 transcriptNM_018460.3:c.N/AIntron Variant
ARHGAP15 transcript variant X1XM_011511479.2:c.N/AIntron Variant
ARHGAP15 transcript variant X4XM_011511481.2:c.N/AIntron Variant
ARHGAP15 transcript variant X6XM_011511482.2:c.N/AIntron Variant
ARHGAP15 transcript variant X7XM_011511483.1:c.N/AIntron Variant
ARHGAP15 transcript variant X2XM_017004499.1:c.N/AIntron Variant
ARHGAP15 transcript variant X5XM_017004500.1:c.N/AIntron Variant
ARHGAP15 transcript variant X8XM_011511484.1:c.N/AGenic Downstream Transcript Variant
ARHGAP15 transcript variant X9XM_017004501.1:c.N/AGenic Downstream Transcript Variant
ARHGAP15 transcript variant X3XR_001738850.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.836G=0.164
1000GenomesAmericanSub694C=0.780G=0.220
1000GenomesEast AsianSub1008C=0.993G=0.007
1000GenomesEuropeSub1006C=0.710G=0.290
1000GenomesGlobalStudy-wide5008C=0.843G=0.157
1000GenomesSouth AsianSub978C=0.880G=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.671G=0.329
The Genome Aggregation DatabaseAfricanSub8726C=0.820G=0.180
The Genome Aggregation DatabaseAmericanSub838C=0.820G=0.180
The Genome Aggregation DatabaseEast AsianSub1608C=0.998G=0.002
The Genome Aggregation DatabaseEuropeSub18444C=0.703G=0.296
The Genome Aggregation DatabaseGlobalStudy-wide29918C=0.756G=0.243
The Genome Aggregation DatabaseOtherSub302C=0.750G=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.773G=0.226
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.686G=0.314
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs104969500.000385nicotine smoking19268276

eQTL of rs10496950 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 rs10496950 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 )
chr2144338848144338943E067-34030
chr2144339162144339242E067-33731
chr2144364247144364408E067-8565
chr2144364445144364560E067-8413
chr2144364578144365887E067-7086
chr2144364578144365887E068-7086
chr2144365976144366122E068-6851
chr2144366372144366589E068-6384
chr2144379669144379749E0686696
chr2144379798144379877E0686825
chr2144381425144381532E0688452
chr2144338848144338943E069-34030
chr2144339162144339242E069-33731
chr2144360726144360851E069-12122
chr2144360929144361371E069-11602
chr2144361560144361646E069-11327
chr2144361664144361772E069-11201
chr2144361831144362393E069-10580
chr2144364578144365887E069-7086
chr2144365976144366122E069-6851
chr2144366372144366589E069-6384
chr2144360929144361371E070-11602
chr2144361560144361646E070-11327
chr2144361664144361772E070-11201
chr2144361831144362393E070-10580
chr2144364578144365887E070-7086
chr2144365976144366122E070-6851
chr2144366372144366589E070-6384
chr2144366671144366721E070-6252
chr2144366983144367109E070-5864
chr2144379798144379877E0706825
chr2144381425144381532E0708452
chr2144338848144338943E071-34030
chr2144339884144340770E071-32203
chr2144360929144361371E071-11602
chr2144364169144364232E071-8741
chr2144364247144364408E071-8565
chr2144364445144364560E071-8413
chr2144364578144365887E071-7086
chr2144372978144373512E0715
chr2144373803144373855E071830
chr2144380774144380835E0717801
chr2144380988144381090E0718015
chr2144381425144381532E0718452
chr2144360726144360851E072-12122
chr2144361560144361646E072-11327
chr2144361664144361772E072-11201
chr2144364445144364560E072-8413
chr2144372978144373512E0725
chr2144379798144379877E0726825
chr2144380774144380835E0727801
chr2144380988144381090E0728015
chr2144381425144381532E0728452
chr2144339884144340770E073-32203
chr2144338848144338943E074-34030
chr2144339162144339242E074-33731
chr2144339884144340770E074-32203
chr2144360726144360851E074-12122
chr2144360929144361371E074-11602
chr2144361560144361646E074-11327
chr2144361664144361772E074-11201
chr2144364247144364408E074-8565
chr2144364578144365887E074-7086
chr2144365976144366122E074-6851
chr2144366372144366589E074-6384
chr2144366671144366721E074-6252
chr2144366983144367109E074-5864
chr2144372978144373512E0745
chr2144380774144380835E0747801
chr2144380988144381090E0748015
chr2144356914144356965E081-16008
chr2144361560144361646E081-11327
chr2144361664144361772E081-11201
chr2144379798144379877E0816825
chr2144380988144381090E0818015
chr2144381425144381532E0818452
chr2144360726144360851E082-12122
chr2144361831144362393E082-10580
chr2144364169144364232E082-8741
chr2144364247144364408E082-8565










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2144339686144339844E067-33129
chr2144339686144339844E068-33129
chr2144339686144339844E069-33129
chr2144339686144339844E071-33129
chr2144339686144339844E072-33129
chr2144339686144339844E074-33129