rs58398985

Homo sapiens
dupT
NAALADL2 : Intron Variant
Check p-value
Indel (Insertion and Deletion)
dupT=0222 (6591/29652,GnomAD)
dupT=0222 (1112/5008,1000G)
chr3:175318979-175318983 (GRCh38.p7) (3q26.31)
AD
GWASCatalog
1   publication(s)
See rs on genome
1 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.175318983dup
GRCh37.p13 chr 3NC_000003.11:g.175036772dup

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 X18XM_011512616.2: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 X20XM_017006083.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322(T)5=0.715dupT=0.285
1000GenomesAmericanSub694(T)5=0.780dupT=0.220
1000GenomesEast AsianSub1008(T)5=0.776dupT=0.224
1000GenomesEuropeSub1006(T)5=0.778dupT=0.222
1000GenomesGlobalStudy-wide5008(T)5=0.778dupT=0.222
1000GenomesSouth AsianSub978(T)5=0.860dupT=0.140
The Genome Aggregation DatabaseAfricanSub8712(T)5=0.747dupT=0.253
The Genome Aggregation DatabaseAmericanSub826(T)5=0.790dupT=0.210
The Genome Aggregation DatabaseEast AsianSub1616(T)5=0.747dupT=0.253
The Genome Aggregation DatabaseEuropeSub18214(T)5=0.793dupT=0.206
The Genome Aggregation DatabaseGlobalStudy-wide29652(T)5=0.777dupT=0.222
The Genome Aggregation DatabaseOtherSub284(T)5=0.830dupT=0.170
PMID Title Author Journal
29460428Genomewide Association Study of Alcohol Dependence and Related Traits in a Thai Population.Gelernter JAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs58398985 4E-06response to alcohol29460428

eQTL of rs58398985 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 rs58398985 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 )
chr3174987945174988628E069-48144
chr3174987945174988628E070-48144
chr3174987945174988628E071-48144
chr3175056551175056910E07119779
chr3175064761175065084E07127989
chr3175064613175064745E07227841
chr3175064761175065084E07227989
chr3174987945174988628E074-48144
chr3175056551175056910E07419779
chr3175064761175065084E07427989
chr3174997292174997503E081-39269






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3175025586175025758E068-11014