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rs587780333

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587780333(-;-)
Make rs587780333(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position37784933
GeneEXOSC3
is asnp
is mentioned by
dbSNPrs587780333
ebirs587780333
HLIrs587780333
Exacrs587780333
Varsomers587780333
Maprs587780333
PheGenIrs587780333
hapmaprs587780333
1000 genomesrs587780333
hgdprs587780333
ensemblrs587780333
gopubmedrs587780333
geneviewrs587780333
scholarrs587780333
googlers587780333
pharmgkbrs587780333
gwascentralrs587780333
openSNPrs587780333
23andMers587780333
23andMe allrs587780333
SNP Nexus

SNPshotrs587780333
SNPdbers587780333
MSV3drs587780333
GWAS Ctlgrs587780333
Max Magnitude0
ClinVar
Risk rs587780333(;)
Alt rs587780333(;)
Reference rs587780333(G;G)
Significance Pathogenic
Disease Pontocerebellar hypoplasia
Variation info
Gene EXOSC3
CLNDBN Pontocerebellar hypoplasia, type 1b
Reversed 1
HGVS NC_000009.11:g.37784930delC
CLNSRC
CLNACC RCV000117004.1,