Have questions? Visit https://www.reddit.com/r/SNPedia

rs672601332

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs672601332(C;C)
Make rs672601332(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position37780795
GeneEXOSC3
is asnp
is mentioned by
dbSNPrs672601332
ebirs672601332
HLIrs672601332
Exacrs672601332
Varsomers672601332
Maprs672601332
PheGenIrs672601332
hapmaprs672601332
1000 genomesrs672601332
hgdprs672601332
ensemblrs672601332
gopubmedrs672601332
geneviewrs672601332
scholarrs672601332
googlers672601332
pharmgkbrs672601332
gwascentralrs672601332
openSNPrs672601332
23andMers672601332
23andMe allrs672601332
SNP Nexus

SNPshotrs672601332
SNPdbers672601332
MSV3drs672601332
GWAS Ctlgrs672601332
Max Magnitude0
ClinVar
Risk rs672601332(C;C)
Alt rs672601332(C;C)
Reference rs672601332(T;T)
Significance Pathogenic
Disease Pontocerebellar hypoplasia
Variation info
Gene EXOSC3
CLNDBN Pontocerebellar hypoplasia, type 1b
Reversed 1
HGVS NC_000009.11:g.37780792A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000024370.5,