Have questions? Visit https://www.reddit.com/r/SNPedia

rs786205157

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786205157(A;C)
Make rs786205157(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position70277057
GeneAARS
is asnp
is mentioned by
dbSNPrs786205157
ebirs786205157
HLIrs786205157
Exacrs786205157
Varsomers786205157
Maprs786205157
PheGenIrs786205157
hapmaprs786205157
1000 genomesrs786205157
hgdprs786205157
ensemblrs786205157
gopubmedrs786205157
geneviewrs786205157
scholarrs786205157
googlers786205157
pharmgkbrs786205157
gwascentralrs786205157
openSNPrs786205157
23andMers786205157
23andMe allrs786205157
SNP Nexus

SNPshotrs786205157
SNPdbers786205157
MSV3drs786205157
GWAS Ctlgrs786205157
Max Magnitude0
ClinVar
Risk rs786205157(C;C)
Alt rs786205157(C;C)
Reference rs786205157(A;A)
Significance Pathogenic
Disease Epileptic encephalopathy not provided
Variation info
Gene AARS
CLNDBN Epileptic encephalopathy, early infantile, 29 not provided
Reversed 1
HGVS NC_000016.9:g.70310960T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000170341.3, RCV000236174.1,