rs10513729

Homo sapiens
T>G
NAALADL2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0475 (14200/29886,GnomAD)
G=0456 (13284/29118,TOPMED)
G=0362 (1815/5008,1000G)
T==0416 (1603/3854,ALSPAC)
T==0414 (1536/3708,TWINSUK)
chr3:174963457 (GRCh38.p7) (3q26.31)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.174963457T>G
GRCh37.p13 chr 3NC_000003.11:g.174681247T>G

Gene: NAALADL2, N-acetylated alpha-linked acidic dipeptidase-like 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
NAALADL2 transcriptNM_207015.2:c.N/AIntron Variant
NAALADL2 transcript variant X12XM_006713560.2:c.N/AIntron Variant
NAALADL2 transcript variant X1XM_011512612.2:c.N/AIntron Variant
NAALADL2 transcript variant X2XM_011512613.1:c.N/AIntron Variant
NAALADL2 transcript variant X15XM_011512615.2:c.N/AIntron Variant
NAALADL2 transcript variant X19XM_011512617.2:c.N/AIntron Variant
NAALADL2 transcript variant X3XM_017006070.1:c.N/AIntron Variant
NAALADL2 transcript variant X4XM_017006071.1:c.N/AIntron Variant
NAALADL2 transcript variant X5XM_017006072.1:c.N/AIntron Variant
NAALADL2 transcript variant X6XM_017006073.1:c.N/AIntron Variant
NAALADL2 transcript variant X7XM_017006074.1:c.N/AIntron Variant
NAALADL2 transcript variant X8XM_017006075.1:c.N/AIntron Variant
NAALADL2 transcript variant X9XM_017006076.1:c.N/AIntron Variant
NAALADL2 transcript variant X10XM_017006077.1:c.N/AIntron Variant
NAALADL2 transcript variant X11XM_017006078.1:c.N/AIntron Variant
NAALADL2 transcript variant X13XM_017006079.1:c.N/AIntron Variant
NAALADL2 transcript variant X14XM_017006080.1:c.N/AIntron Variant
NAALADL2 transcript variant X16XM_017006081.1:c.N/AIntron Variant
NAALADL2 transcript variant X17XM_017006082.1:c.N/AIntron Variant
NAALADL2 transcript variant X18XM_011512616.2:c.N/AGenic Upstream Transcript Variant
NAALADL2 transcript variant X20XM_017006083.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.638G=0.362
1000GenomesAmericanSub694T=0.600G=0.400
1000GenomesEast AsianSub1008T=0.862G=0.138
1000GenomesEuropeSub1006T=0.437G=0.563
1000GenomesGlobalStudy-wide5008T=0.638G=0.362
1000GenomesSouth AsianSub978T=0.640G=0.360
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.416G=0.584
The Genome Aggregation DatabaseAfricanSub8708T=0.614G=0.386
The Genome Aggregation DatabaseAmericanSub836T=0.680G=0.320
The Genome Aggregation DatabaseEast AsianSub1602T=0.866G=0.134
The Genome Aggregation DatabaseEuropeSub18438T=0.444G=0.555
The Genome Aggregation DatabaseGlobalStudy-wide29886T=0.524G=0.475
The Genome Aggregation DatabaseOtherSub302T=0.610G=0.390
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.543G=0.456
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.414G=0.586
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
rs105137290.000577alcohol consumption (maxi-drinks)24277619

eQTL of rs10513729 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 rs10513729 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 )
chr3174676783174677052E068-4195
chr3174677188174677390E068-3857
chr3174674838174675167E071-6080
chr3174675273174675343E071-5904
chr3174675388174675957E071-5290
chr3174676264174676768E071-4479
chr3174676783174677052E071-4195
chr3174677188174677390E071-3857
chr3174677188174677390E072-3857
chr3174674838174675167E074-6080
chr3174675273174675343E074-5904
chr3174675388174675957E074-5290
chr3174677188174677390E081-3857