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rs606231285

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231285(A;A)
Make rs606231285(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position37000810
GeneALG5, EXOSC8
is asnp
is mentioned by
dbSNPrs606231285
ebirs606231285
HLIrs606231285
Exacrs606231285
Varsomers606231285
Maprs606231285
PheGenIrs606231285
hapmaprs606231285
1000 genomesrs606231285
hgdprs606231285
ensemblrs606231285
gopubmedrs606231285
geneviewrs606231285
scholarrs606231285
googlers606231285
pharmgkbrs606231285
gwascentralrs606231285
openSNPrs606231285
23andMers606231285
23andMe allrs606231285
SNP Nexus

SNPshotrs606231285
SNPdbers606231285
MSV3drs606231285
GWAS Ctlgrs606231285
Max Magnitude0
ClinVar
Risk rs606231285(A;A)
Alt rs606231285(A;A)
Reference rs606231285(G;G)
Significance Pathogenic
Disease Pontocerebellar hypoplasia
Variation info
Gene EXOSC8 ALG5
CLNDBN Pontocerebellar hypoplasia, type 1c
Reversed 1
HGVS NC_000013.10:g.37574947C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000144942.3,