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rs72658161

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72658161(A;A)
Make rs72658161(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position94420252
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs72658161
ebirs72658161
HLIrs72658161
Exacrs72658161
Varsomers72658161
Maprs72658161
PheGenIrs72658161
hapmaprs72658161
1000 genomesrs72658161
hgdprs72658161
ensemblrs72658161
gopubmedrs72658161
geneviewrs72658161
scholarrs72658161
googlers72658161
pharmgkbrs72658161
gwascentralrs72658161
openSNPrs72658161
23andMers72658161
23andMe allrs72658161
SNP Nexus

SNPshotrs72658161
SNPdbers72658161
MSV3drs72658161
GWAS Ctlgrs72658161
Max Magnitude0
ClinVar
Risk rs72658161(A;A)
Alt rs72658161(A;A)
Reference rs72658161(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.94049564G>A
CLNSRC
CLNACC RCV000177822.1, RCV000177823.1,