rs12213388

Homo sapiens
T>C
ARHGAP18 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0157 (4721/29956,GnomAD)
C=0182 (5325/29118,TOPMED)
C=0168 (840/5008,1000G)
C=0161 (622/3854,ALSPAC)
C=0164 (609/3708,TWINSUK)
chr6:129711600 (GRCh38.p7) (6q22.33)
AD
GWASdb2
2   publication(s)
See rs on genome
33 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.129711600T>C
GRCh37.p13 chr 6NC_000006.11:g.130032745T>C

Gene: ARHGAP18, Rho GTPase activating protein 18(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
ARHGAP18 transcriptNM_033515.2:c.N/AUpstream Transcript Variant
ARHGAP18 transcript variant X3XM_005267213.1:c.N/AUpstream Transcript Variant
ARHGAP18 transcript variant X1XM_005267212.2:c.N/AN/A
ARHGAP18 transcript variant X2XM_017011494.1:c.N/AN/A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.722C=0.278
1000GenomesAmericanSub694T=0.780C=0.220
1000GenomesEast AsianSub1008T=0.923C=0.077
1000GenomesEuropeSub1006T=0.841C=0.159
1000GenomesGlobalStudy-wide5008T=0.832C=0.168
1000GenomesSouth AsianSub978T=0.920C=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.839C=0.161
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.817C=0.182
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.836C=0.164
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
19065146Gene discovery through imaging genetics: identification of two novel genes associated with schizophrenia.Potkin SGMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs122133880.000332alcohol dependence20201924

eQTL of rs12213388 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 rs12213388 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 )
chr6129983059129983180E067-49565
chr6129983224129983838E067-48907
chr6130004738130005774E068-26971
chr6129983059129983180E069-49565
chr6129983224129983838E069-48907
chr6130005778130005907E069-26838
chr6129983059129983180E070-49565
chr6129983224129983838E070-48907
chr6129988808129988994E070-43751
chr6129989066129989184E070-43561
chr6130010905130011071E070-21674
chr6130011152130011361E070-21384
chr6130080058130080246E07047313
chr6129983059129983180E071-49565
chr6129983224129983838E071-48907
chr6130072887130073419E07140142
chr6129983059129983180E072-49565
chr6129983224129983838E072-48907
chr6129983059129983180E073-49565
chr6129983224129983838E073-48907
chr6129983059129983180E074-49565
chr6129983224129983838E074-48907
chr6129983059129983180E081-49565
chr6129983224129983838E081-48907
chr6129988305129988410E081-44335
chr6129988474129988534E081-44211
chr6129988808129988994E081-43751
chr6129989066129989184E081-43561
chr6129989294129989353E081-43392
chr6129989387129989508E081-43237
chr6130006851130007149E081-25596
chr6130011152130011361E081-21384
chr6129983224129983838E082-48907










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr6130029959130032190E067-555
chr6130029959130032190E068-555
chr6130029959130032190E070-555
chr6130029959130032190E071-555
chr6130029959130032190E072-555
chr6130029959130032190E073-555
chr6130029959130032190E074-555
chr6130029959130032190E081-555
chr6130029959130032190E082-555