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rs746260871

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs746260871(C;C)
Make rs746260871(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position82949964
GenePCLO
is asnp
is mentioned by
dbSNPrs746260871
ebirs746260871
HLIrs746260871
Exacrs746260871
Varsomers746260871
Maprs746260871
PheGenIrs746260871
hapmaprs746260871
1000 genomesrs746260871
hgdprs746260871
ensemblrs746260871
gopubmedrs746260871
geneviewrs746260871
scholarrs746260871
googlers746260871
pharmgkbrs746260871
gwascentralrs746260871
openSNPrs746260871
23andMers746260871
23andMe allrs746260871
SNP Nexus

SNPshotrs746260871
SNPdbers746260871
MSV3drs746260871
GWAS Ctlgrs746260871
Max Magnitude0
ClinVar
Risk rs746260871(A,C;A,C)
Alt rs746260871(A,C;A,C)
Reference rs746260871(G;G)
Significance Pathogenic
Disease Pontocerebellar hypoplasia type 3
Variation info
Gene PCLO
CLNDBN Pontocerebellar hypoplasia type 3
Reversed 0
HGVS NC_000007.13:g.82579280G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000173044.3,