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rs143370729

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs143370729(C;C)
Make rs143370729(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position70255763
GeneAARS
is asnp
is mentioned by
dbSNPrs143370729
ebirs143370729
HLIrs143370729
Exacrs143370729
Varsomers143370729
Maprs143370729
PheGenIrs143370729
hapmaprs143370729
1000 genomesrs143370729
hgdprs143370729
ensemblrs143370729
gopubmedrs143370729
geneviewrs143370729
scholarrs143370729
googlers143370729
pharmgkbrs143370729
gwascentralrs143370729
openSNPrs143370729
23andMers143370729
23andMe allrs143370729
SNP Nexus

SNPshotrs143370729
SNPdbers143370729
MSV3drs143370729
GWAS Ctlgrs143370729
Max Magnitude0
ClinVar
Risk rs143370729(C;C)
Alt rs143370729(C;C)
Reference rs143370729(T;T)
Significance Pathogenic
Disease Epileptic encephalopathy not specified
Variation info
Gene AARS
CLNDBN Epileptic encephalopathy, early infantile, 29 not specified
Reversed 0
HGVS NC_000016.9:g.70289666T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000170342.3, RCV000236870.1,