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rs587777591

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777591(A;A)
Make rs587777591(A;G)
ReferenceGRCh38 38.1/142
Chromosome6
Position44305072
GeneAARS2
is asnp
is mentioned by
dbSNPrs587777591
ebirs587777591
HLIrs587777591
Exacrs587777591
Varsomers587777591
Maprs587777591
PheGenIrs587777591
hapmaprs587777591
1000 genomesrs587777591
hgdprs587777591
ensemblrs587777591
gopubmedrs587777591
geneviewrs587777591
scholarrs587777591
googlers587777591
pharmgkbrs587777591
gwascentralrs587777591
openSNPrs587777591
23andMers587777591
23andMe allrs587777591
SNP Nexus

SNPshotrs587777591
SNPdbers587777591
MSV3drs587777591
GWAS Ctlgrs587777591
Max Magnitude0
ClinVar
Risk rs587777591(A;A)
Alt rs587777591(A;A)
Reference rs587777591(G;G)
Significance Pathogenic
Disease Leukoencephalopathy
Variation info
Gene AARS2
CLNDBN Leukoencephalopathy, progressive, with ovarian failure
Reversed 0
HGVS NC_000006.11:g.44272809G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000132554.3,