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rs147391618

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs147391618(C;C)
Make rs147391618(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position87589923
GeneORC3, RARS2
is asnp
is mentioned by
dbSNPrs147391618
ebirs147391618
HLIrs147391618
Exacrs147391618
Varsomers147391618
Maprs147391618
PheGenIrs147391618
hapmaprs147391618
1000 genomesrs147391618
hgdprs147391618
ensemblrs147391618
gopubmedrs147391618
geneviewrs147391618
scholarrs147391618
googlers147391618
pharmgkbrs147391618
gwascentralrs147391618
openSNPrs147391618
23andMers147391618
23andMe allrs147391618
SNP Nexus

SNPshotrs147391618
SNPdbers147391618
MSV3drs147391618
GWAS Ctlgrs147391618
Max Magnitude0
ClinVar
Risk rs147391618(C;C)
Alt rs147391618(C;C)
Reference rs147391618(T;T)
Significance Pathogenic
Disease Pontocerebellar hypoplasia type 6
Variation info
Gene RARS2 ORC3
CLNDBN Pontocerebellar hypoplasia type 6
Reversed 0
HGVS NC_000006.11:g.88299641T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023899.3,