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rs727505392

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727505392(-;-)
Make rs727505392(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position48981552
GeneWNT1
is asnp
is mentioned by
dbSNPrs727505392
dbSNP (classic)rs727505392
ClinGenrs727505392
ebirs727505392
HLIrs727505392
Exacrs727505392
Gnomadrs727505392
Varsomers727505392
LitVarrs727505392
Maprs727505392
PheGenIrs727505392
Biobankrs727505392
1000 genomesrs727505392
hgdprs727505392
ensemblrs727505392
geneviewrs727505392
scholarrs727505392
googlers727505392
pharmgkbrs727505392
gwascentralrs727505392
openSNPrs727505392
23andMers727505392
SNPshotrs727505392
SNPdbers727505392
MSV3drs727505392
GWAS Ctlgrs727505392
Max Magnitude0
ClinVar
Risk rs727505392(-;-)
Alt rs727505392(-;-)
Reference Rs727505392(C;C)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene WNT1
CLNDBN Osteogenesis imperfecta, type xv
Reversed 0
HGVS NC_000012.11:g.49375335delC
CLNSRC
CLNACC RCV000157063.2,