rs950614

Homo sapiens
G>A
LOC105372920 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0177 (5309/29926,GnomAD)
A=0160 (4660/29116,TOPMED)
A=0185 (928/5008,1000G)
A=0155 (599/3854,ALSPAC)
A=0165 (610/3708,TWINSUK)
chr1:217191283 (GRCh38.p7) (1q41)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.217191283G>A
GRCh37.p13 chr 1NC_000001.10:g.217364625G>A

Gene: LOC105372920, uncharacterized LOC105372920(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
LOC105372920 transcriptXR_922600.2:n.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.853A=0.147
1000GenomesAmericanSub694G=0.810A=0.190
1000GenomesEast AsianSub1008G=0.739A=0.261
1000GenomesEuropeSub1006G=0.802A=0.198
1000GenomesGlobalStudy-wide5008G=0.815A=0.185
1000GenomesSouth AsianSub978G=0.860A=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.845A=0.155
The Genome Aggregation DatabaseAfricanSub8714G=0.847A=0.153
The Genome Aggregation DatabaseAmericanSub838G=0.800A=0.200
The Genome Aggregation DatabaseEast AsianSub1606G=0.765A=0.235
The Genome Aggregation DatabaseEuropeSub18466G=0.816A=0.183
The Genome Aggregation DatabaseGlobalStudy-wide29926G=0.822A=0.177
The Genome Aggregation DatabaseOtherSub302G=0.830A=0.170
Trans-Omics for Precision MedicineGlobalStudy-wide29116G=0.840A=0.160
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.835A=0.165
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
rs9506140.000925alcohol dependence20201924

eQTL of rs950614 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 rs950614 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.