Have questions? Visit https://www.reddit.com/r/SNPedia

rs72659354

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72659354(G;T)
Make rs72659354(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position42752536
GeneP3H1
is asnp
is mentioned by
dbSNPrs72659354
ebirs72659354
HLIrs72659354
Exacrs72659354
Varsomers72659354
Maprs72659354
PheGenIrs72659354
hapmaprs72659354
1000 genomesrs72659354
hgdprs72659354
ensemblrs72659354
gopubmedrs72659354
geneviewrs72659354
scholarrs72659354
googlers72659354
pharmgkbrs72659354
gwascentralrs72659354
openSNPrs72659354
23andMers72659354
23andMe allrs72659354
SNP Nexus

SNPshotrs72659354
SNPdbers72659354
MSV3drs72659354
GWAS Ctlgrs72659354
Max Magnitude0
ClinVar
Risk rs72659354(T;T)
Alt rs72659354(T;T)
Reference rs72659354(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.43218207C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001316.3,