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rs147844153

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs147844153(A;A)
Make rs147844153(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position87518679
GeneRARS2
is asnp
is mentioned by
dbSNPrs147844153
dbSNP (classic)rs147844153
ClinGenrs147844153
ebirs147844153
HLIrs147844153
Exacrs147844153
Gnomadrs147844153
Varsomers147844153
LitVarrs147844153
Maprs147844153
PheGenIrs147844153
Biobankrs147844153
1000 genomesrs147844153
hgdprs147844153
ensemblrs147844153
geneviewrs147844153
scholarrs147844153
googlers147844153
pharmgkbrs147844153
gwascentralrs147844153
openSNPrs147844153
23andMers147844153
SNPshotrs147844153
SNPdbers147844153
MSV3drs147844153
GWAS Ctlgrs147844153
Max Magnitude0
ClinVar
Risk rs147844153(A;A)
Alt rs147844153(A;A)
Reference Rs147844153(G;G)
Significance Probable-Pathogenic
Disease not provided Pontoneocerebellar hypoplasia
Variation info
Gene RARS2
CLNDBN not provided Pontoneocerebellar hypoplasia
Reversed 0
HGVS NC_000006.11:g.88228397G>A
CLNSRC
CLNACC RCV000197557.2, RCV000312542.1,