rs9950729

Homo sapiens
T>C
LINC00470 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0152 (4552/29904,GnomAD)
C=0168 (4896/29118,TOPMED)
C=0189 (946/5008,1000G)
C=0131 (504/3854,ALSPAC)
C=0129 (477/3708,TWINSUK)
chr18:1344119 (GRCh38.p7) (18p11.32)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.1344119T>C
GRCh37.p13 chr 18NC_000018.9:g.1344120T>C

Gene: LINC00470, long intergenic non-protein coding RNA 470(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LINC00470 transcript variant 1NR_023925.1:n.N/AIntron Variant
LINC00470 transcript variant 2NR_023926.1:n.N/AIntron Variant
LINC00470 transcript variant 3NR_023927.1:n.N/AIntron Variant
LINC00470 transcript variant 4NR_110327.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.744C=0.256
1000GenomesAmericanSub694T=0.880C=0.120
1000GenomesEast AsianSub1008T=0.809C=0.191
1000GenomesEuropeSub1006T=0.884C=0.116
1000GenomesGlobalStudy-wide5008T=0.811C=0.189
1000GenomesSouth AsianSub978T=0.780C=0.220
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.869C=0.131
The Genome Aggregation DatabaseAfricanSub8724T=0.799C=0.201
The Genome Aggregation DatabaseAmericanSub830T=0.870C=0.130
The Genome Aggregation DatabaseEast AsianSub1596T=0.838C=0.162
The Genome Aggregation DatabaseEuropeSub18452T=0.871C=0.128
The Genome Aggregation DatabaseGlobalStudy-wide29904T=0.847C=0.152
The Genome Aggregation DatabaseOtherSub302T=0.790C=0.210
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.831C=0.168
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.871C=0.129
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
rs99507290.00016Alcohol dependence (early age of onset)20201924
rs99507290.00029alcohol dependence20201924

eQTL of rs9950729 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 rs9950729 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.