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rs72659351

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72659351(G;T)
Make rs72659351(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position42757782
GeneP3H1
is asnp
is mentioned by
dbSNPrs72659351
ebirs72659351
HLIrs72659351
Exacrs72659351
Varsomers72659351
Maprs72659351
PheGenIrs72659351
hapmaprs72659351
1000 genomesrs72659351
hgdprs72659351
ensemblrs72659351
gopubmedrs72659351
geneviewrs72659351
scholarrs72659351
googlers72659351
pharmgkbrs72659351
gwascentralrs72659351
openSNPrs72659351
23andMers72659351
23andMe allrs72659351
SNP Nexus

SNPshotrs72659351
SNPdbers72659351
MSV3drs72659351
GWAS Ctlgrs72659351
Max Magnitude0
ClinVar
Risk rs72659351(T;T)
Alt rs72659351(T;T)
Reference rs72659351(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta type 8
Variation info
Gene LEPRE1 P3H1
CLNDBN Osteogenesis imperfecta type 8
Reversed 1
HGVS NC_000001.10:g.43223453C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001315.4,