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rs121912906

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912906(G;T)
Make rs121912906(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position94412593
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs121912906
ebirs121912906
HLIrs121912906
Exacrs121912906
Varsomers121912906
Maprs121912906
PheGenIrs121912906
hapmaprs121912906
1000 genomesrs121912906
hgdprs121912906
ensemblrs121912906
gopubmedrs121912906
geneviewrs121912906
scholarrs121912906
googlers121912906
pharmgkbrs121912906
gwascentralrs121912906
openSNPrs121912906
23andMers121912906
23andMe allrs121912906
SNP Nexus

SNPshotrs121912906
SNPdbers121912906
MSV3drs121912906
GWAS Ctlgrs121912906
Max Magnitude0
OMIM120160
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121912906(T;T)
Alt rs121912906(T;T)
Reference rs121912906(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 0
HGVS NC_000007.13:g.94041905G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018789.28,