rs1994074

Homo sapiens
T>C
ARHGAP24 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0122 (3678/29948,GnomAD)
C=0183 (5349/29118,TOPMED)
C=0145 (725/5008,1000G)
C=0018 (70/3854,ALSPAC)
C=0018 (65/3708,TWINSUK)
chr4:85542405 (GRCh38.p7) (4q21.23)
AD
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.85542405T>C
GRCh37.p13 chr 4NC_000004.11:g.86463558T>C

Gene: ARHGAP24, Rho GTPase activating protein 24(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ARHGAP24 transcript variant 1NM_001025616.2:c.N/AIntron Variant
ARHGAP24 transcript variant 3NM_001042669.1:c.N/AGenic Upstream Transcript Variant
ARHGAP24 transcript variant 4NM_001287805.1:c.N/AGenic Upstream Transcript Variant
ARHGAP24 transcript variant 2NM_031305.2:c.N/AGenic Upstream Transcript Variant
ARHGAP24 transcript variant X3XM_011532300.2:c.N/AGenic Upstream Transcript Variant
ARHGAP24 transcript variant X2XM_017008679.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.535C=0.465
1000GenomesAmericanSub694T=0.940C=0.060
1000GenomesEast AsianSub1008T=0.975C=0.025
1000GenomesEuropeSub1006T=0.981C=0.019
1000GenomesGlobalStudy-wide5008T=0.855C=0.145
1000GenomesSouth AsianSub978T=0.970C=0.030
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.982C=0.018
The Genome Aggregation DatabaseAfricanSub8690T=0.608C=0.392
The Genome Aggregation DatabaseAmericanSub838T=0.970C=0.030
The Genome Aggregation DatabaseEast AsianSub1622T=0.984C=0.016
The Genome Aggregation DatabaseEuropeSub18496T=0.988C=0.011
The Genome Aggregation DatabaseGlobalStudy-wide29948T=0.877C=0.122
The Genome Aggregation DatabaseOtherSub302T=0.990C=0.010
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.816C=0.183
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.982C=0.018
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs19940740.000615alcohol dependence21314694

eQTL of rs1994074 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 rs1994074 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 )
chr48644412186444223E071-19335