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rs746514660

From SNPedia

Merged intors587777589
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs746514660(-;C)
Make rs746514660(C;C)
ReferenceGRCh38.p7 38.3/149
Chromosome6
Position44311095
GeneAARS2
is asnp
is mentioned by
dbSNPrs746514660
dbSNP (classic)rs746514660
ClinGenrs746514660
ebirs746514660
HLIrs746514660
Exacrs746514660
Gnomadrs746514660
Varsomers746514660
LitVarrs746514660
Maprs746514660
PheGenIrs746514660
Biobankrs746514660
1000 genomesrs746514660
hgdprs746514660
ensemblrs746514660
geneviewrs746514660
scholarrs746514660
googlers746514660
pharmgkbrs746514660
gwascentralrs746514660
openSNPrs746514660
23andMers746514660
23andMe allrs746514660
SNPshotrs746514660
SNPdbers746514660
MSV3drs746514660
GWAS Ctlgrs746514660
StatusMerged into rs587777589
Max Magnitude0
ClinVar
Risk rs746514660(C;C)
Alt rs746514660(C;C)
Reference Rs746514660(;)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 8 Leukoencephalopathy
Variation info
Gene AARS2
CLNDBN Combined oxidative phosphorylation deficiency 8 Leukoencephalopathy, progressive, with ovarian failure
Reversed 0
HGVS NC_000006.11:g.44278833dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000132552.4, RCV000320263.1,