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rs387907196

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907196(C;C)
Make rs387907196(C;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position37784953
GeneEXOSC3
is asnp
is mentioned by
dbSNPrs387907196
ebirs387907196
HLIrs387907196
Exacrs387907196
Varsomers387907196
Maprs387907196
PheGenIrs387907196
hapmaprs387907196
1000 genomesrs387907196
hgdprs387907196
ensemblrs387907196
gopubmedrs387907196
geneviewrs387907196
scholarrs387907196
googlers387907196
pharmgkbrs387907196
gwascentralrs387907196
openSNPrs387907196
23andMers387907196
23andMe allrs387907196
SNP Nexus

SNPshotrs387907196
SNPdbers387907196
MSV3drs387907196
GWAS Ctlgrs387907196
Max Magnitude0
ClinVar
Risk rs387907196(C;C)
Alt rs387907196(C;C)
Reference rs387907196(G;G)
Significance Pathogenic
Disease Pontocerebellar hypoplasia
Variation info
Gene EXOSC3
CLNDBN Pontocerebellar hypoplasia, type 1b
Reversed 1
HGVS NC_000009.11:g.37784950C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000024369.5,