rs9480703

Homo sapiens
A>C
LOC100422737 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0195 (5860/29942,GnomAD)
C=0249 (7271/29118,TOPMED)
C=0249 (1248/5008,1000G)
C=0045 (175/3854,ALSPAC)
C=0049 (181/3708,TWINSUK)
chr6:106742549 (GRCh38.p7) (6q21)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.106742549A>C
GRCh37.p13 chr 6 fix patch HG357_PATCHNW_004504300.1:g.47172A>C
GRCh37.p13 chr 6NC_000006.11:g.107190424A>C

Gene: LOC100422737, uncharacterized LOC100422737(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LINC02532 transcriptNR_033557.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.458C=0.542
1000GenomesAmericanSub694A=0.740C=0.260
1000GenomesEast AsianSub1008A=0.843C=0.157
1000GenomesEuropeSub1006A=0.918C=0.082
1000GenomesGlobalStudy-wide5008A=0.751C=0.249
1000GenomesSouth AsianSub978A=0.890C=0.110
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.955C=0.045
The Genome Aggregation DatabaseAfricanSub8704A=0.534C=0.466
The Genome Aggregation DatabaseAmericanSub836A=0.800C=0.200
The Genome Aggregation DatabaseEast AsianSub1620A=0.879C=0.121
The Genome Aggregation DatabaseEuropeSub18480A=0.923C=0.076
The Genome Aggregation DatabaseGlobalStudy-wide29942A=0.804C=0.195
The Genome Aggregation DatabaseOtherSub302A=0.940C=0.060
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.750C=0.249
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.951C=0.049
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs94807034.8E-05alcohol consumption23743675

eQTL of rs9480703 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 rs9480703 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.