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rs137853952

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs137853952(AG;C)
Make rs137853952(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position42752644
GeneLEPRE1
is asnp
is mentioned by
dbSNPrs137853952
ebirs137853952
HLIrs137853952
Exacrs137853952
Varsomers137853952
Maprs137853952
PheGenIrs137853952
hapmaprs137853952
1000 genomesrs137853952
hgdprs137853952
ensemblrs137853952
gopubmedrs137853952
geneviewrs137853952
scholarrs137853952
googlers137853952
pharmgkbrs137853952
gwascentralrs137853952
openSNPrs137853952
23andMers137853952
23andMe allrs137853952
SNP Nexus

SNPshotrs137853952
SNPdbers137853952
MSV3drs137853952
GWAS Ctlgrs137853952
Max Magnitude0
ClinVar
Risk rs137853952(C;C)
Alt rs137853952(C;C)
Reference rs137853952(AG;AG)
Significance Pathogenic
Disease Osteogenesis imperfecta type 8
Variation info
Gene LEPRE1 P3H1
CLNDBN Osteogenesis imperfecta type 8
Reversed 1
HGVS NC_000001.10:g.43218315_43218316delCTinsG
CLNSRC OMIM Allelic Variant
CLNACC RCV000001319.3,