rs1869324

Homo sapiens
G>A
THSD7B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0091 (2731/29948,GnomAD)
A=0063 (1833/29118,TOPMED)
A=0038 (192/5008,1000G)
A=0138 (532/3854,ALSPAC)
A=0130 (482/3708,TWINSUK)
chr2:137469872 (GRCh38.p7) (2q22.1)
AD
GWASdb2
3   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.137469872G>A
GRCh37.p13 chr 2NC_000002.11:g.138227442G>A

Gene: THSD7B, thrombospondin type 1 domain containing 7B(plus strand)

Molecule type Change Amino acid[Codon] SO Term
THSD7B transcriptNM_001316349.1:c.N/AIntron Variant
THSD7B transcript variant X1XM_017005049.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.994A=0.006
1000GenomesAmericanSub694G=0.960A=0.040
1000GenomesEast AsianSub1008G=1.000A=0.000
1000GenomesEuropeSub1006G=0.884A=0.116
1000GenomesGlobalStudy-wide5008G=0.962A=0.038
1000GenomesSouth AsianSub978G=0.960A=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.862A=0.138
The Genome Aggregation DatabaseAfricanSub8724G=0.979A=0.021
The Genome Aggregation DatabaseAmericanSub838G=0.960A=0.040
The Genome Aggregation DatabaseEast AsianSub1610G=0.999A=0.001
The Genome Aggregation DatabaseEuropeSub18474G=0.864A=0.135
The Genome Aggregation DatabaseGlobalStudy-wide29948G=0.908A=0.091
The Genome Aggregation DatabaseOtherSub302G=0.970A=0.030
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.937A=0.063
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.870A=0.130
PMID Title Author Journal
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
21956439Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q.Zuo LNeuropsychopharmacology

P-Value

SNP ID p-value Traits Study
rs18693240.000000471alcohol dependence21703634
rs18693240.00054alcohol dependence20201924

eQTL of rs1869324 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 rs1869324 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction