rs9640279

Homo sapiens
G>T
GIMAP4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0249 (7462/29886,GnomAD)
T=0268 (7815/29118,TOPMED)
T=0254 (1274/5008,1000G)
T=0224 (865/3854,ALSPAC)
T=0219 (813/3708,TWINSUK)
chr7:150571010 (GRCh38.p7) (7q36.1)
AD
GWASdb2
2   publication(s)
See rs on genome
10 Enhancers around
55 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.150571010G>T
GRCh37.p13 chr 7NC_000007.13:g.150268098G>T

Gene: GIMAP4, GTPase, IMAP family member 4(plus strand)

Molecule type Change Amino acid[Codon] SO Term
GIMAP4 transcript variant 1NM_018326.2:c.N/AIntron Variant
GIMAP4 transcript variant X1XM_005250017.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.685T=0.315
1000GenomesAmericanSub694G=0.820T=0.180
1000GenomesEast AsianSub1008G=0.708T=0.292
1000GenomesEuropeSub1006G=0.777T=0.223
1000GenomesGlobalStudy-wide5008G=0.746T=0.254
1000GenomesSouth AsianSub978G=0.780T=0.220
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.776T=0.224
The Genome Aggregation DatabaseAfricanSub8696G=0.697T=0.303
The Genome Aggregation DatabaseAmericanSub838G=0.800T=0.200
The Genome Aggregation DatabaseEast AsianSub1606G=0.681T=0.319
The Genome Aggregation DatabaseEuropeSub18444G=0.778T=0.221
The Genome Aggregation DatabaseGlobalStudy-wide29886G=0.750T=0.249
The Genome Aggregation DatabaseOtherSub302G=0.800T=0.200
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.731T=0.268
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.781T=0.219
PMID Title Author Journal
25964488GIMAP GTPase family genes: potential modifiers in autoimmune diabetes, asthma, and allergy.Heinonen MTJ Immunol
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
rs96402790.000154alcohol consumption (maxi-drinks)24277619

eQTL of rs9640279 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 rs9640279 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 )
chr7150283263150283467E06815165
chr7150283601150284284E06815503
chr7150284360150284410E06916262
chr7150284422150284472E06916324
chr7150284548150284591E06916450
chr7150267439150267489E074-609
chr7150267666150268024E074-74
chr7150261722150262382E081-5716
chr7150262471150262651E081-5447
chr7150261722150262382E082-5716





Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7150264277150264706E067-3392
chr7150264879150265013E067-3085
chr7150265062150265365E067-2733
chr7150264277150264706E068-3392
chr7150264879150265013E068-3085
chr7150265062150265365E068-2733
chr7150265434150265540E068-2558
chr7150265584150265632E068-2466
chr7150265728150265852E068-2246
chr7150265891150266061E068-2037
chr7150266081150266220E068-1878
chr7150266418150266568E068-1530
chr7150264277150264706E069-3392
chr7150264879150265013E069-3085
chr7150265062150265365E069-2733
chr7150265434150265540E069-2558
chr7150265584150265632E069-2466
chr7150265728150265852E069-2246
chr7150265891150266061E069-2037
chr7150266081150266220E069-1878
chr7150266418150266568E069-1530
chr7150266726150266926E069-1172
chr7150264277150264706E071-3392
chr7150264879150265013E071-3085
chr7150265062150265365E071-2733
chr7150265434150265540E071-2558
chr7150265584150265632E071-2466
chr7150265728150265852E071-2246
chr7150265891150266061E071-2037
chr7150266081150266220E071-1878
chr7150266418150266568E071-1530
chr7150266726150266926E071-1172
chr7150264277150264706E072-3392
chr7150264879150265013E072-3085
chr7150265062150265365E072-2733
chr7150265434150265540E072-2558
chr7150265584150265632E072-2466
chr7150265728150265852E072-2246
chr7150265891150266061E072-2037
chr7150266081150266220E072-1878
chr7150266418150266568E072-1530
chr7150264277150264706E073-3392
chr7150264879150265013E073-3085
chr7150265062150265365E073-2733
chr7150265434150265540E073-2558
chr7150265584150265632E073-2466
chr7150265728150265852E073-2246
chr7150265891150266061E073-2037
chr7150266081150266220E073-1878
chr7150264879150265013E074-3085
chr7150265062150265365E074-2733
chr7150265434150265540E074-2558
chr7150265584150265632E074-2466
chr7150265728150265852E074-2246
chr7150265891150266061E074-2037