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rs72659355

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs72659355(A;A)
Make rs72659355(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position42750250
GeneLEPRE1
is asnp
is mentioned by
dbSNPrs72659355
ebirs72659355
HLIrs72659355
Exacrs72659355
Varsomers72659355
Maprs72659355
PheGenIrs72659355
hapmaprs72659355
1000 genomesrs72659355
hgdprs72659355
ensemblrs72659355
gopubmedrs72659355
geneviewrs72659355
scholarrs72659355
googlers72659355
pharmgkbrs72659355
gwascentralrs72659355
openSNPrs72659355
23andMers72659355
23andMe allrs72659355
SNP Nexus

SNPshotrs72659355
SNPdbers72659355
MSV3drs72659355
GWAS Ctlgrs72659355
Max Magnitude0
OMIM610339
Desc
Variant0004
Relatedalso
ClinVar
Risk rs72659355(A;A)
Alt rs72659355(A;A)
Reference rs72659355(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.43215921G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001318.3,