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rs672601331

From SNPedia

Orientationminus
Geno Mag Summary
(TGTTTACTGG;TGTTTACTGG) 0 common in clinvar
Make rs672601331(-;-)
Make rs672601331(-;TGTTTACTGG)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position37784742
GeneEXOSC3
is asnp
is mentioned by
dbSNPrs672601331
ebirs672601331
HLIrs672601331
Exacrs672601331
Varsomers672601331
Maprs672601331
PheGenIrs672601331
hapmaprs672601331
1000 genomesrs672601331
hgdprs672601331
ensemblrs672601331
gopubmedrs672601331
geneviewrs672601331
scholarrs672601331
googlers672601331
pharmgkbrs672601331
gwascentralrs672601331
openSNPrs672601331
23andMers672601331
23andMe allrs672601331
SNP Nexus

SNPshotrs672601331
SNPdbers672601331
MSV3drs672601331
GWAS Ctlgrs672601331
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs672601331(TGTTTACTGG;TGTTTACTGG)
Significance Pathogenic
Disease Pontocerebellar hypoplasia
Variation info
Gene EXOSC3
CLNDBN Pontocerebellar hypoplasia, type 1b
Reversed 1
HGVS NC_000009.11:g.37784739_37784748delCCAGTAAACA
CLNSRC OMIM Allelic Variant
CLNACC RCV000024368.4,