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rs863225043

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225043(G;T)
Make rs863225043(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position33114195
GeneCRTAP
is asnp
is mentioned by
dbSNPrs863225043
dbSNP (classic)rs863225043
ClinGenrs863225043
ebirs863225043
HLIrs863225043
Exacrs863225043
Gnomadrs863225043
Varsomers863225043
LitVarrs863225043
Maprs863225043
PheGenIrs863225043
Biobankrs863225043
1000 genomesrs863225043
hgdprs863225043
ensemblrs863225043
geneviewrs863225043
scholarrs863225043
googlers863225043
pharmgkbrs863225043
gwascentralrs863225043
openSNPrs863225043
23andMers863225043
SNPshotrs863225043
SNPdbers863225043
MSV3drs863225043
GWAS Ctlgrs863225043
Max Magnitude0
ClinVar
Risk rs863225043(T;T)
Alt rs863225043(T;T)
Reference Rs863225043(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.33155687G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000201190.2,