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rs72659357

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72659357(A;A)
Make rs72659357(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position33114080
GeneCRTAP
is asnp
is mentioned by
dbSNPrs72659357
ebirs72659357
HLIrs72659357
Exacrs72659357
Varsomers72659357
Maprs72659357
PheGenIrs72659357
hapmaprs72659357
1000 genomesrs72659357
hgdprs72659357
ensemblrs72659357
gopubmedrs72659357
geneviewrs72659357
scholarrs72659357
googlers72659357
pharmgkbrs72659357
gwascentralrs72659357
openSNPrs72659357
23andMers72659357
23andMe allrs72659357
SNP Nexus

SNPshotrs72659357
SNPdbers72659357
MSV3drs72659357
GWAS Ctlgrs72659357
Max Magnitude0
OMIM605497
Desc
Variant0005
Relatedalso


ClinVar
Risk rs72659357(A;A)
Alt rs72659357(A;A)
Reference rs72659357(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta type 7
Variation info
Gene CRTAP
CLNDBN Osteogenesis imperfecta type 7
Reversed 0
HGVS NC_000003.11:g.33155572G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005239.3,