rs930321

Homo sapiens
T>A / T>C
LOC105376607 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0313 (9334/29758,GnomAD)
C=0299 (8720/29118,TOPMED)
C=0282 (1412/5008,1000G)
chr11:30144349 (GRCh38.p7) (11p14.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.30144349T>A
GRCh38.p7 chr 11NC_000011.10:g.30144349T>C
GRCh37.p13 chr 11NC_000011.9:g.30165896T>A
GRCh37.p13 chr 11NC_000011.9:g.30165896T>C

Gene: LOC105376607, uncharacterized LOC105376607(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105376607 transcriptXR_931152.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.798C=0.202
1000GenomesAmericanSub694T=0.760C=0.240
1000GenomesEast AsianSub1008T=0.756C=0.244
1000GenomesEuropeSub1006T=0.629C=0.371
1000GenomesGlobalStudy-wide5008T=0.718C=0.282
1000GenomesSouth AsianSub978T=0.630C=0.370
The Genome Aggregation DatabaseAfricanSub8672T=0.775C=0.225
The Genome Aggregation DatabaseAmericanSub836T=0.770C=0.230
The Genome Aggregation DatabaseEast AsianSub1596T=0.720C=0.280
The Genome Aggregation DatabaseEuropeSub18354T=0.636C=0.363
The Genome Aggregation DatabaseGlobalStudy-wide29758T=0.686C=0.313
The Genome Aggregation DatabaseOtherSub300T=0.720C=0.280
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.700C=0.299
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs9303210.000426alcohol dependence20201924

eQTL of rs930321 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr11:30165896RP4-710M3.1ENSG00000242353.1T>C6.5843e-4-223799Hypothalamus
Chr11:30165896RP11-624D11.2ENSG00000254532.1T>C2.5074e-860006Caudate_basal_ganglia
Chr11:30165896RP4-710M3.1ENSG00000242353.1T>C9.9335e-11-223799Caudate_basal_ganglia

meQTL of rs930321 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.