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rs141138948

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs141138948(G;G)
Make rs141138948(G;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position37783993
GeneEXOSC3
is asnp
is mentioned by
dbSNPrs141138948
ebirs141138948
HLIrs141138948
Exacrs141138948
Varsomers141138948
Maprs141138948
PheGenIrs141138948
hapmaprs141138948
1000 genomesrs141138948
hgdprs141138948
ensemblrs141138948
gopubmedrs141138948
geneviewrs141138948
scholarrs141138948
googlers141138948
pharmgkbrs141138948
gwascentralrs141138948
openSNPrs141138948
23andMers141138948
23andMe allrs141138948
SNP Nexus

SNPshotrs141138948
SNPdbers141138948
MSV3drs141138948
GWAS Ctlgrs141138948
Max Magnitude0
ClinVar
Risk rs141138948(G;G)
Alt rs141138948(G;G)
Reference rs141138948(T;T)
Significance Other
Disease Pontocerebellar hypoplasia Inborn genetic diseases not provided
Variation info
Gene EXOSC3
CLNDBN Pontocerebellar hypoplasia, type 1b Inborn genetic diseases not provided
Reversed 0
HGVS NC_000009.11:g.37783990T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000024366.4, RCV000190687.1, RCV000224817.1,