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rs374550999

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs374550999(A;A)
Make rs374550999(A;C)
ReferenceGRCh38 38.1/142
Chromosome9
Position37784807
GeneEXOSC3
is asnp
is mentioned by
dbSNPrs374550999
ebirs374550999
HLIrs374550999
Exacrs374550999
Varsomers374550999
Maprs374550999
PheGenIrs374550999
hapmaprs374550999
1000 genomesrs374550999
hgdprs374550999
ensemblrs374550999
gopubmedrs374550999
geneviewrs374550999
scholarrs374550999
googlers374550999
pharmgkbrs374550999
gwascentralrs374550999
openSNPrs374550999
23andMers374550999
23andMe allrs374550999
SNP Nexus

SNPshotrs374550999
SNPdbers374550999
MSV3drs374550999
GWAS Ctlgrs374550999
Max Magnitude0
ClinVar
Risk rs374550999(A;A)
Alt rs374550999(A;A)
Reference rs374550999(C;C)
Significance Other
Disease Pontocerebellar hypoplasia
Variation info
Gene EXOSC3
CLNDBN Pontocerebellar hypoplasia, type 1b
Reversed 0
HGVS NC_000009.11:g.37784804C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000117005.7,