rs154148

Homo sapiens
T>C
LOC105371084 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0465 (13942/29932,GnomAD)
C=0482 (14037/29118,TOPMED)
T==0459 (2301/5008,1000G)
C=0347 (1337/3854,ALSPAC)
C=0346 (1284/3708,TWINSUK)
chr16:11862621 (GRCh38.p7) (16p13.13)
AD
GWASdb2
1   publication(s)
See rs on genome
98 Enhancers around
40 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.11862621T>C
GRCh37.p13 chr 16NC_000016.9:g.11956478T>C

Gene: LOC105371084, uncharacterized LOC105371084(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105371084 transcript variant X2XR_001752085.1:n.N/AIntron Variant
LOC105371084 transcript variant X1XR_933077.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.343C=0.657
1000GenomesAmericanSub694T=0.570C=0.430
1000GenomesEast AsianSub1008T=0.257C=0.743
1000GenomesEuropeSub1006T=0.621C=0.379
1000GenomesGlobalStudy-wide5008T=0.459C=0.541
1000GenomesSouth AsianSub978T=0.580C=0.420
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.653C=0.347
The Genome Aggregation DatabaseAfricanSub8706T=0.390C=0.610
The Genome Aggregation DatabaseAmericanSub838T=0.500C=0.500
The Genome Aggregation DatabaseEast AsianSub1610T=0.232C=0.768
The Genome Aggregation DatabaseEuropeSub18478T=0.627C=0.372
The Genome Aggregation DatabaseGlobalStudy-wide29932T=0.534C=0.465
The Genome Aggregation DatabaseOtherSub300T=0.650C=0.350
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.517C=0.482
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.654C=0.346
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs1541480.000797alcohol consumption (maxi-drinks)24277619

eQTL of rs154148 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr16:11956478RP11-166B2.1ENSG00000234719.4T>C0.0000e+0-114022Cerebellum
Chr16:11956478RP11-166B2.1ENSG00000234719.4T>C0.0000e+0-114022Cortex
Chr16:11956478RP11-166B2.1ENSG00000234719.4T>C0.0000e+0-114022Caudate_basal_ganglia

meQTL of rs154148 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.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr161194815511948195E067-8283
chr161194838311948423E067-8055
chr161194853211948645E067-7833
chr161200406412004412E06747586
chr161200452812004642E06748050
chr161200473612004822E06748258
chr161200483612004880E06748358
chr161200510212005191E06748624
chr161190765311907848E068-48630
chr161191821011918829E068-37649
chr161194777311947879E068-8599
chr161194815511948195E068-8283
chr161194838311948423E068-8055
chr161194853211948645E068-7833
chr161199056311990629E06834085
chr161199069511991122E06834217
chr161200406412004412E06847586
chr161200452812004642E06848050
chr161200473612004822E06848258
chr161200483612004880E06848358
chr161200510212005191E06848624
chr161200633212006427E06849854
chr161194838311948423E069-8055
chr161194853211948645E069-7833
chr161194940211949536E069-6942
chr161194959811949658E069-6820
chr161195908011959141E0692602
chr161200406412004412E06947586
chr161200452812004642E06948050
chr161200473612004822E06948258
chr161200483612004880E06948358
chr161194692611947000E070-9478
chr161194716611947244E070-9234
chr161194777311947879E070-8599
chr161194815511948195E070-8283
chr161194838311948423E070-8055
chr161194853211948645E070-7833
chr161199056311990629E07034085
chr161191821011918829E071-37649
chr161194777311947879E071-8599
chr161194815511948195E071-8283
chr161194838311948423E071-8055
chr161194853211948645E071-7833
chr161195889711958947E0712419
chr161195908011959141E0712602
chr161195921311959360E0712735
chr161199056311990629E07134085
chr161199069511991122E07134217
chr161200406412004412E07147586
chr161200452812004642E07148050
chr161200473612004822E07148258
chr161200483612004880E07148358
chr161200633212006427E07149854
chr161196693111966985E07210453
chr161200294712003216E07246469
chr161200322812003285E07246750
chr161200338912003447E07246911
chr161200366612003753E07247188
chr161200406412004412E07247586
chr161200452812004642E07248050
chr161200473612004822E07248258
chr161200483612004880E07248358
chr161191821011918829E073-37649
chr161194275511943086E073-13392
chr161194315511943241E073-13237
chr161200104212001092E07344564
chr161200109612001161E07344618
chr161200141712001606E07344939
chr161200163512001757E07345157
chr161200406412004412E07347586
chr161200452812004642E07348050
chr161200473612004822E07348258
chr161200483612004880E07348358
chr161200510212005191E07348624
chr161200522412005321E07348746
chr161194777311947879E074-8599
chr161194815511948195E074-8283
chr161194838311948423E074-8055
chr161194853211948645E074-7833
chr161196512011965373E0748642
chr161196548811965592E0749010
chr161200452812004642E07448050
chr161200473612004822E07448258
chr161200483612004880E07448358
chr161194692611947000E081-9478
chr161194716611947244E081-9234
chr161194777311947879E081-8599
chr161194815511948195E081-8283
chr161194838311948423E081-8055
chr161194853211948645E081-7833
chr161199056311990629E08134085
chr161200483612004880E08148358
chr161200633212006427E08149854
chr161194838311948423E082-8055
chr161194853211948645E082-7833
chr161200473612004822E08248258
chr161200483612004880E08248358
chr161200633212006427E08249854










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr161194435811944403E067-12075
chr161194445111944512E067-11966
chr161194452811944669E067-11809
chr161194482211946352E067-10126
chr161194435811944403E068-12075
chr161194445111944512E068-11966
chr161194452811944669E068-11809
chr161194482211946352E068-10126
chr161194435811944403E069-12075
chr161194445111944512E069-11966
chr161194452811944669E069-11809
chr161194482211946352E069-10126
chr161194435811944403E070-12075
chr161194445111944512E070-11966
chr161194452811944669E070-11809
chr161194482211946352E070-10126
chr161194435811944403E071-12075
chr161194445111944512E071-11966
chr161194452811944669E071-11809
chr161194482211946352E071-10126
chr161194435811944403E072-12075
chr161194445111944512E072-11966
chr161194452811944669E072-11809
chr161194482211946352E072-10126
chr161194435811944403E073-12075
chr161194445111944512E073-11966
chr161194452811944669E073-11809
chr161194482211946352E073-10126
chr161194435811944403E074-12075
chr161194445111944512E074-11966
chr161194452811944669E074-11809
chr161194482211946352E074-10126
chr161194435811944403E081-12075
chr161194445111944512E081-11966
chr161194452811944669E081-11809
chr161194482211946352E081-10126
chr161194435811944403E082-12075
chr161194445111944512E082-11966
chr161194452811944669E082-11809
chr161194482211946352E082-10126