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rs387907195

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907195(C;C)
Make rs387907195(C;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position37783973
GeneEXOSC3
is asnp
is mentioned by
dbSNPrs387907195
ebirs387907195
HLIrs387907195
Exacrs387907195
Varsomers387907195
Maprs387907195
PheGenIrs387907195
hapmaprs387907195
1000 genomesrs387907195
hgdprs387907195
ensemblrs387907195
gopubmedrs387907195
geneviewrs387907195
scholarrs387907195
googlers387907195
pharmgkbrs387907195
gwascentralrs387907195
openSNPrs387907195
23andMers387907195
23andMe allrs387907195
SNP Nexus

SNPshotrs387907195
SNPdbers387907195
MSV3drs387907195
GWAS Ctlgrs387907195
Max Magnitude0
ClinVar
Risk rs387907195(C;C)
Alt rs387907195(C;C)
Reference rs387907195(G;G)
Significance Pathogenic
Disease Pontocerebellar hypoplasia
Variation info
Gene EXOSC3
CLNDBN Pontocerebellar hypoplasia, type 1b
Reversed 1
HGVS NC_000009.11:g.37783970C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000024367.5,