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rs587777590

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777590(A;C)
Make rs587777590(C;C)
ReferenceGRCh38 38.1/142
Chromosome6
Position44313175
GeneAARS2
is asnp
is mentioned by
dbSNPrs587777590
ebirs587777590
HLIrs587777590
Exacrs587777590
Varsomers587777590
Maprs587777590
PheGenIrs587777590
hapmaprs587777590
1000 genomesrs587777590
hgdprs587777590
ensemblrs587777590
gopubmedrs587777590
geneviewrs587777590
scholarrs587777590
googlers587777590
pharmgkbrs587777590
gwascentralrs587777590
openSNPrs587777590
23andMers587777590
23andMe allrs587777590
SNP Nexus

SNPshotrs587777590
SNPdbers587777590
MSV3drs587777590
GWAS Ctlgrs587777590
Max Magnitude0
ClinVar
Risk rs587777590(A,C;A,C)
Alt rs587777590(A,C;A,C)
Reference rs587777590(T;T)
Significance Pathogenic
Disease Leukoencephalopathy
Variation info
Gene AARS2
CLNDBN Leukoencephalopathy, progressive, with ovarian failure
Reversed 1
HGVS NC_000006.11:g.44280912A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000132553.2,