rs10942782

Homo sapiens
T>C
IQGAP2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0484 (14497/29908,GnomAD)
C=0464 (13513/29118,TOPMED)
C=0476 (2386/5008,1000G)
T==0496 (1913/3854,ALSPAC)
T==0497 (1844/3708,TWINSUK)
chr5:76485465 (GRCh38.p7) (5q13.3)
AD
GWASdb2
1   publication(s)
See rs on genome
42 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.76485465T>C
GRCh37.p13 chr 5NC_000005.9:g.75781290T>C

Gene: IQGAP2, IQ motif containing GTPase activating protein 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
IQGAP2 transcript variant 1NM_006633.3:c.N/AIntron Variant
IQGAP2 transcript variant 2NM_001285460.1:c.N/AGenic Upstream Transcript Variant
IQGAP2 transcript variant 3NM_001285461.1:c.N/AGenic Upstream Transcript Variant
IQGAP2 transcript variant 4NM_001285462.1:c.N/AGenic Upstream Transcript Variant
IQGAP2 transcript variant X1XM_005248410.2:c.N/AIntron Variant
IQGAP2 transcript variant X4XM_017008960.1:c.N/AIntron Variant
IQGAP2 transcript variant X3XM_005248414.1:c.N/AGenic Upstream Transcript Variant
IQGAP2 transcript variant X4XM_011543108.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.617C=0.383
1000GenomesAmericanSub694T=0.420C=0.580
1000GenomesEast AsianSub1008T=0.505C=0.495
1000GenomesEuropeSub1006T=0.498C=0.502
1000GenomesGlobalStudy-wide5008T=0.524C=0.476
1000GenomesSouth AsianSub978T=0.520C=0.480
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.496C=0.504
The Genome Aggregation DatabaseAfricanSub8698T=0.607C=0.393
The Genome Aggregation DatabaseAmericanSub838T=0.450C=0.550
The Genome Aggregation DatabaseEast AsianSub1612T=0.524C=0.476
The Genome Aggregation DatabaseEuropeSub18460T=0.473C=0.527
The Genome Aggregation DatabaseGlobalStudy-wide29908T=0.515C=0.484
The Genome Aggregation DatabaseOtherSub300T=0.580C=0.420
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.535C=0.464
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.497C=0.503
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs109427820.000282alcohol dependence20201924

eQTL of rs10942782 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 rs10942782 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 )
chr57573975475739811E070-41479
chr57574541275745790E070-35500
chr57574588475746151E070-35139
chr57574636375746417E070-34873
chr57574698775747186E070-34104
chr57577474075774866E070-6424
chr57577517775775454E070-5836
chr57577848175778605E070-2685
chr57577889875779045E070-2245
chr57578569275786102E0704402
chr57581993775820263E07038647
chr57582026675820586E07038976
chr57582071375821015E07039423
chr57582109675821187E07039806
chr57582182175822120E07040531
chr57574588475746151E081-35139
chr57574636375746417E081-34873
chr57577474075774866E081-6424
chr57577517775775454E081-5836
chr57577848175778605E081-2685
chr57582026675820586E08138976
chr57582071375821015E08139423
chr57582109675821187E08139806
chr57582275675823241E08141466
chr57574541275745790E082-35500
chr57574588475746151E082-35139
chr57574698775747186E082-34104
chr57576759775767664E082-13626
chr57576779775768064E082-13226
chr57576813475768242E082-13048
chr57576834875768699E082-12591
chr57577449075774709E082-6581
chr57577474075774866E082-6424
chr57577517775775454E082-5836
chr57577564875775716E082-5574
chr57577575975775869E082-5421
chr57577589775776059E082-5231
chr57577606675776199E082-5091
chr57578569275786102E0824402
chr57582071375821015E08239423
chr57582182175822120E08240531
chr57582275675823241E08241466