rs556155

Homo sapiens
T>C
IARS : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0172 (20927/121144,ExAC)
C=0135 (4069/29948,GnomAD)
C=0116 (3398/29118,TOPMED)
T==0131 (1712/13006,GO-ESP)
C=0161 (804/5008,1000G)
C=0159 (611/3854,ALSPAC)
C=0146 (541/3708,TWINSUK)
chr9:92223355 (GRCh38.p7) (9q22.31)
AD
GWASdb2
3   publication(s)
See rs on genome
10 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.92223355T>C
GRCh37.p13 chr 9NC_000009.11:g.94985637T>C

Gene: IARS, isoleucyl-tRNA synthetase(minus strand)

Molecule type Change Amino acid[Codon] SO Term
IARS transcript variant 1NM_002161.5:c.354...NM_002161.5:c.3544A>GK [AAG]> E [GAG]Coding Sequence Variant
isoleucine--tRNA ligase, cytoplasmicNP_002152.2:p.Lys...NP_002152.2:p.Lys1182GluK [Lys]> E [Glu]Missense Variant
IARS transcript variant 2NM_013417.3:c.354...NM_013417.3:c.3544A>GK [AAG]> E [GAG]Coding Sequence Variant
isoleucine--tRNA ligase, cytoplasmicNP_038203.2:p.Lys...NP_038203.2:p.Lys1182GluK [Lys]> E [Glu]Missense Variant
IARS transcript variant 3NR_073446.1:n.354...NR_073446.1:n.3540A>GA>GNon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.946C=0.054
1000GenomesAmericanSub694T=0.800C=0.200
1000GenomesEast AsianSub1008T=0.879C=0.121
1000GenomesEuropeSub1006T=0.854C=0.146
1000GenomesGlobalStudy-wide5008T=0.839C=0.161
1000GenomesSouth AsianSub978T=0.670C=0.330
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.841C=0.159
The Exome Aggregation ConsortiumAmericanSub21952T=0.868C=0.131
The Exome Aggregation ConsortiumAsianSub25050T=0.772C=0.227
The Exome Aggregation ConsortiumEuropeSub73234T=0.833C=0.166
The Exome Aggregation ConsortiumGlobalStudy-wide121144T=0.827C=0.172
The Exome Aggregation ConsortiumOtherSub908T=0.830C=0.170
The Genome Aggregation DatabaseAfricanSub8718T=0.927C=0.073
The Genome Aggregation DatabaseAmericanSub838T=0.820C=0.180
The Genome Aggregation DatabaseEast AsianSub1612T=0.901C=0.099
The Genome Aggregation DatabaseEuropeSub18478T=0.832C=0.167
The Genome Aggregation DatabaseGlobalStudy-wide29948T=0.864C=0.135
The Genome Aggregation DatabaseOtherSub302T=0.890C=0.110
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.883C=0.116
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.854C=0.146
PMID Title Author Journal
25310850Association of aminoacyl-tRNA synthetases gene polymorphisms with the risk of congenital heart disease in the Chinese Han population.Da MPLoS One
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res
20920668Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.McLaughlin HMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs5561550.000969alcohol dependence21314694

eQTL of rs556155 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 rs556155 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 )
chr99501674295016940E06731105
chr99500427695004350E06818639
chr99501674295016940E07131105
chr99494294094943556E072-42081
chr99494363494943839E072-41798
chr99501674295016940E07231105
chr99494267794942878E073-42759
chr99494294094943556E073-42081
chr99494363494943839E073-41798
chr99500427695004350E07418639