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rs797045911

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs797045911(-;-)
Make rs797045911(-;AA)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position87520237
GeneRARS2
is asnp
is mentioned by
dbSNPrs797045911
dbSNP (classic)rs797045911
ClinGenrs797045911
ebirs797045911
HLIrs797045911
Exacrs797045911
Gnomadrs797045911
Varsomers797045911
LitVarrs797045911
Maprs797045911
PheGenIrs797045911
Biobankrs797045911
1000 genomesrs797045911
hgdprs797045911
ensemblrs797045911
geneviewrs797045911
scholarrs797045911
googlers797045911
pharmgkbrs797045911
gwascentralrs797045911
openSNPrs797045911
23andMers797045911
SNPshotrs797045911
SNPdbers797045911
MSV3drs797045911
GWAS Ctlgrs797045911
Max Magnitude0
ClinVar
Risk rs797045911(-;-)
Alt rs797045911(-;-)
Reference Rs797045911(AA;AA)
Significance Probable-Pathogenic
Disease Pontocerebellar hypoplasia type 6
Variation info
Gene RARS2
CLNDBN Pontocerebellar hypoplasia type 6
Reversed 1
HGVS NC_000006.11:g.88229955_88229956delTT
CLNSRC
CLNACC RCV000194218.1,