rs1894709

Homo sapiens
G>T
KIAA0040 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0419 (12542/29910,GnomAD)
T=0394 (11492/29118,TOPMED)
T=0315 (1580/5008,1000G)
T=0465 (1791/3854,ALSPAC)
T=0479 (1775/3708,TWINSUK)
chr1:175163235 (GRCh38.p7) (1q25.1)
AD | ND
GWASdb2
4   publication(s)
See rs on genome
8 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.175163235G>T
GRCh37.p13 chr 1NC_000001.10:g.175132371G>T

Gene: KIAA0040, KIAA0040(minus strand)

Molecule type Change Amino acid[Codon] SO Term
KIAA0040 transcript variant 1NM_001162893.1:c.N/AIntron Variant
KIAA0040 transcript variant 3NM_001162894.1:c.N/AIntron Variant
KIAA0040 transcript variant 4NM_001162895.1:c.N/AIntron Variant
KIAA0040 transcript variant 5NM_001319230.1:c.N/AIntron Variant
KIAA0040 transcript variant 6NM_001319231.1:c.N/AIntron Variant
KIAA0040 transcript variant 2NM_014656.2:c.N/AIntron Variant
KIAA0040 transcript variant X1XM_017002909.1:c.N/AIntron Variant
KIAA0040 transcript variant X2XM_017002910.1:c.N/AIntron Variant
KIAA0040 transcript variant X3XM_017002911.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.625T=0.375
1000GenomesAmericanSub694G=0.680T=0.320
1000GenomesEast AsianSub1008G=0.856T=0.144
1000GenomesEuropeSub1006G=0.561T=0.439
1000GenomesGlobalStudy-wide5008G=0.685T=0.315
1000GenomesSouth AsianSub978G=0.720T=0.280
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.535T=0.465
The Genome Aggregation DatabaseAfricanSub8690G=0.602T=0.398
The Genome Aggregation DatabaseAmericanSub836G=0.710T=0.290
The Genome Aggregation DatabaseEast AsianSub1612G=0.870T=0.130
The Genome Aggregation DatabaseEuropeSub18470G=0.536T=0.463
The Genome Aggregation DatabaseGlobalStudy-wide29910G=0.580T=0.419
The Genome Aggregation DatabaseOtherSub302G=0.730T=0.270
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.605T=0.394
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.521T=0.479
PMID Title Author Journal
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res
21956439Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q.Zuo LNeuropsychopharmacology
20202923A genome-wide association study of alcohol dependence.Bierut LJProc Natl Acad Sci U S A
22488850Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence.Zuo LAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs18947090.0000016alcohol and nictotine co-dependence22488850
rs18947090.00000212alcohol dependence21703634
rs18947090.00000278alcohol dependence20202923
rs18947090.00043alcohol dependence21956439

eQTL of rs1894709 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 rs1894709 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 )
chr1175127262175127638E067-4733
chr1175127726175127793E067-4578
chr1175121212175121706E069-10665
chr1175138495175138718E0696124
chr1175117508175117593E070-14778
chr1175131566175131616E070-755
chr1175131702175131793E070-578
chr1175131845175132044E070-327
chr1175132208175132358E070-13
chr1175169465175169525E07137094
chr1175169774175170871E07137403
chr1175121212175121706E072-10665
chr1175173548175173704E07341177
chr1175173714175173889E07341343
chr1175115170175115364E081-17007
chr1175115429175115500E081-16871
chr1175115737175116333E081-16038
chr1175116438175116534E081-15837
chr1175116763175117071E081-15300
chr1175117325175117401E081-14970
chr1175117508175117593E081-14778
chr1175120951175121040E081-11331
chr1175121212175121706E081-10665
chr1175127262175127638E082-4733
chr1175127726175127793E082-4578
chr1175173548175173704E08241177
chr1175173714175173889E08241343








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1175160861175163201E06728490
chr1175160861175163201E06828490
chr1175160861175163201E06928490
chr1175160861175163201E07128490
chr1175160861175163201E07228490
chr1175160861175163201E07328490
chr1175160861175163201E07428490
chr1175160861175163201E08228490