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rs543267101

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs543267101(C;T)
Make rs543267101(T;T)
ReferenceGRCh38 38.1/142
Chromosome6
Position44300612
GeneAARS2
is asnp
is mentioned by
dbSNPrs543267101
ebirs543267101
HLIrs543267101
Exacrs543267101
Varsomers543267101
Maprs543267101
PheGenIrs543267101
hapmaprs543267101
1000 genomesrs543267101
hgdprs543267101
ensemblrs543267101
gopubmedrs543267101
geneviewrs543267101
scholarrs543267101
googlers543267101
pharmgkbrs543267101
gwascentralrs543267101
openSNPrs543267101
23andMers543267101
23andMe allrs543267101
SNP Nexus

SNPshotrs543267101
SNPdbers543267101
MSV3drs543267101
GWAS Ctlgrs543267101
Max Magnitude0
ClinVar
Risk rs543267101(T;T)
Alt rs543267101(T;T)
Reference rs543267101(C;C)
Significance Pathogenic
Disease Leukoencephalopathy
Variation info
Gene AARS2
CLNDBN Leukoencephalopathy, progressive, with ovarian failure
Reversed 0
HGVS NC_000006.11:g.44268349C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000132555.2,