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rs67707918

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs67707918(A;A)
Make rs67707918(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position94410501
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs67707918
dbSNP (classic)rs67707918
ClinGenrs67707918
ebirs67707918
HLIrs67707918
Exacrs67707918
Gnomadrs67707918
Varsomers67707918
LitVarrs67707918
Maprs67707918
PheGenIrs67707918
Biobankrs67707918
1000 genomesrs67707918
hgdprs67707918
ensemblrs67707918
geneviewrs67707918
scholarrs67707918
googlers67707918
pharmgkbrs67707918
gwascentralrs67707918
openSNPrs67707918
23andMers67707918
SNPshotrs67707918
SNPdbers67707918
MSV3drs67707918
GWAS Ctlgrs67707918
Max Magnitude0
ClinVar
Risk rs67707918(A;A) rs67707918(T;T)
Alt rs67707918(A;A) rs67707918(T;T)
Reference Rs67707918(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta with normal sclerae
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta with normal sclerae, dominant form
Reversed 0
HGVS NC_000007.13:g.94039813G>A
CLNSRC
CLNACC RCV000490690.1,