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rs121912907

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912907(G;T)
Make rs121912907(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position94415263
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs121912907
ebirs121912907
HLIrs121912907
Exacrs121912907
Varsomers121912907
Maprs121912907
PheGenIrs121912907
hapmaprs121912907
1000 genomesrs121912907
hgdprs121912907
ensemblrs121912907
gopubmedrs121912907
geneviewrs121912907
scholarrs121912907
googlers121912907
pharmgkbrs121912907
gwascentralrs121912907
openSNPrs121912907
23andMers121912907
23andMe allrs121912907
SNP Nexus

SNPshotrs121912907
SNPdbers121912907
MSV3drs121912907
GWAS Ctlgrs121912907
Max Magnitude0
OMIM120160
Desc
Variant0023
Relatedalso
ClinVar
Risk rs121912907(T;T)
Alt rs121912907(T;T)
Reference rs121912907(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta with normal sclerae Osteogenesis imperfecta type III
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta with normal sclerae, dominant form Osteogenesis imperfecta type III
Reversed 0
HGVS NC_000007.13:g.94044575G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018793.22, RCV000018794.30,