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rs267606741

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606741(A;A)
Make rs267606741(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position94411066
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs267606741
dbSNP (classic)rs267606741
ClinGenrs267606741
ebirs267606741
HLIrs267606741
Exacrs267606741
Gnomadrs267606741
Varsomers267606741
LitVarrs267606741
Maprs267606741
PheGenIrs267606741
Biobankrs267606741
1000 genomesrs267606741
hgdprs267606741
ensemblrs267606741
geneviewrs267606741
scholarrs267606741
googlers267606741
pharmgkbrs267606741
gwascentralrs267606741
openSNPrs267606741
23andMers267606741
SNPshotrs267606741
SNPdbers267606741
MSV3drs267606741
GWAS Ctlgrs267606741
Max Magnitude0
ClinVar
Risk rs267606741(A;A)
Alt rs267606741(A;A)
Reference Rs267606741(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 0
HGVS NC_000007.13:g.94040378G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018822.28,