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rs768171831

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs768171831(C;T)
Make rs768171831(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position94426011
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs768171831
ebirs768171831
HLIrs768171831
Exacrs768171831
Varsomers768171831
Maprs768171831
PheGenIrs768171831
hapmaprs768171831
1000 genomesrs768171831
hgdprs768171831
ensemblrs768171831
gopubmedrs768171831
geneviewrs768171831
scholarrs768171831
googlers768171831
pharmgkbrs768171831
gwascentralrs768171831
openSNPrs768171831
23andMers768171831
23andMe allrs768171831
SNP Nexus

SNPshotrs768171831
SNPdbers768171831
MSV3drs768171831
GWAS Ctlgrs768171831
Max Magnitude0
ClinVar
Risk rs768171831(T;T)
Alt rs768171831(T;T)
Reference rs768171831(C;C)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta type III Osteogenesis imperfecta with normal sclerae Osteogenesis imperfecta
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta type III Osteogenesis imperfecta with normal sclerae, dominant form Osteogenesis imperfecta, recessive perinatal lethal
Reversed 0
HGVS NC_000007.13:g.94055323C>T
CLNSRC
CLNACC RCV000199225.1,