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rs72658151

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72658151(A;A)
Make rs72658151(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position94417832
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs72658151
ebirs72658151
HLIrs72658151
Exacrs72658151
Varsomers72658151
Maprs72658151
PheGenIrs72658151
hapmaprs72658151
1000 genomesrs72658151
hgdprs72658151
ensemblrs72658151
gopubmedrs72658151
geneviewrs72658151
scholarrs72658151
googlers72658151
pharmgkbrs72658151
gwascentralrs72658151
openSNPrs72658151
23andMers72658151
23andMe allrs72658151
SNP Nexus

SNPshotrs72658151
SNPdbers72658151
MSV3drs72658151
GWAS Ctlgrs72658151
Max Magnitude0
ClinVar
Risk rs72658151(A;A)
Alt rs72658151(A;A)
Reference rs72658151(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta type III Osteogenesis imperfecta with normal sclerae
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta type III Osteogenesis imperfecta with normal sclerae, dominant form
Reversed 0
HGVS NC_000007.13:g.94047144G>A
CLNSRC
CLNACC RCV000177588.1, RCV000177589.1,