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rs72659348

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72659348(-;-)
Make rs72659348(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position42759262
GeneP3H1
is asnp
is mentioned by
dbSNPrs72659348
ebirs72659348
HLIrs72659348
Exacrs72659348
Varsomers72659348
Maprs72659348
PheGenIrs72659348
hapmaprs72659348
1000 genomesrs72659348
hgdprs72659348
ensemblrs72659348
gopubmedrs72659348
geneviewrs72659348
scholarrs72659348
googlers72659348
pharmgkbrs72659348
gwascentralrs72659348
openSNPrs72659348
23andMers72659348
23andMe allrs72659348
SNP Nexus

SNPshotrs72659348
SNPdbers72659348
MSV3drs72659348
GWAS Ctlgrs72659348
Max Magnitude0
ClinVar
Risk rs72659348(;)
Alt rs72659348(;)
Reference rs72659348(C;C)
Significance Pathogenic
Disease Osteogenesis imperfecta type 8
Variation info
Gene LEPRE1 P3H1
CLNDBN Osteogenesis imperfecta type 8
Reversed 1
HGVS NC_000001.10:g.43224933delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000001317.3,