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rs730882145

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730882145(G;T)
Make rs730882145(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position37782041
GeneEXOSC3
is asnp
is mentioned by
dbSNPrs730882145
ebirs730882145
HLIrs730882145
Exacrs730882145
Varsomers730882145
Maprs730882145
PheGenIrs730882145
hapmaprs730882145
1000 genomesrs730882145
hgdprs730882145
ensemblrs730882145
gopubmedrs730882145
geneviewrs730882145
scholarrs730882145
googlers730882145
pharmgkbrs730882145
gwascentralrs730882145
openSNPrs730882145
23andMers730882145
23andMe allrs730882145
SNP Nexus

SNPshotrs730882145
SNPdbers730882145
MSV3drs730882145
GWAS Ctlgrs730882145
Max Magnitude0
ClinVar
Risk rs730882145(A,T;A,T)
Alt rs730882145(A,T;A,T)
Reference rs730882145(G;G)
Significance Pathogenic
Disease Pontocerebellar hypoplasia
Variation info
Gene EXOSC3
CLNDBN Pontocerebellar hypoplasia, type 1b
Reversed 1
HGVS NC_000009.11:g.37782038C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000161917.3,