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rs72659361

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72659361(C;T)
Make rs72659361(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position33129971
GeneCRTAP
is asnp
is mentioned by
dbSNPrs72659361
dbSNP (old)rs72659361
ClinGenrs72659361
ebirs72659361
HLIrs72659361
Exacrs72659361
Gnomadrs72659361
Varsomers72659361
Maprs72659361
PheGenIrs72659361
Biobankrs72659361
1000 genomesrs72659361
hgdprs72659361
ensemblrs72659361
gopubmedrs72659361
geneviewrs72659361
scholarrs72659361
googlers72659361
pharmgkbrs72659361
gwascentralrs72659361
openSNPrs72659361
23andMers72659361
23andMe allrs72659361
SNP Nexus

SNPshotrs72659361
SNPdbers72659361
MSV3drs72659361
GWAS Ctlgrs72659361
GMAF0.0004591
Max Magnitude0
OMIM605497
Desc
Variant0004
Relatedalso


ClinVar
Risk rs72659361(T;T)
Alt rs72659361(T;T)
Reference Rs72659361(C;C)
Significance Pathogenic
Disease Osteogenesis imperfecta type 7
Variation info
Gene CRTAP
CLNDBN Osteogenesis imperfecta type 7
Reversed 0
HGVS NC_000003.11:g.33171463C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005238.5,