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rs587777592

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777592(C;T)
Make rs587777592(T;T)
ReferenceGRCh38 38.1/142
Chromosome6
Position44306367
GeneAARS2
is asnp
is mentioned by
dbSNPrs587777592
ebirs587777592
HLIrs587777592
Exacrs587777592
Varsomers587777592
Maprs587777592
PheGenIrs587777592
hapmaprs587777592
1000 genomesrs587777592
hgdprs587777592
ensemblrs587777592
gopubmedrs587777592
geneviewrs587777592
scholarrs587777592
googlers587777592
pharmgkbrs587777592
gwascentralrs587777592
openSNPrs587777592
23andMers587777592
23andMe allrs587777592
SNP Nexus

SNPshotrs587777592
SNPdbers587777592
MSV3drs587777592
GWAS Ctlgrs587777592
Max Magnitude0
ClinVar
Risk rs587777592(T;T)
Alt rs587777592(T;T)
Reference rs587777592(C;C)
Significance Pathogenic
Disease Leukoencephalopathy
Variation info
Gene AARS2
CLNDBN Leukoencephalopathy, progressive, with ovarian failure
Reversed 0
HGVS NC_000006.11:g.44274104C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000132556.3,