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rs121912909

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912909(A;A)
Make rs121912909(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position94415245
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs121912909
ebirs121912909
HLIrs121912909
Exacrs121912909
Varsomers121912909
Maprs121912909
PheGenIrs121912909
hapmaprs121912909
1000 genomesrs121912909
hgdprs121912909
ensemblrs121912909
gopubmedrs121912909
geneviewrs121912909
scholarrs121912909
googlers121912909
pharmgkbrs121912909
gwascentralrs121912909
openSNPrs121912909
23andMers121912909
23andMe allrs121912909
SNP Nexus

SNPshotrs121912909
SNPdbers121912909
MSV3drs121912909
GWAS Ctlgrs121912909
Max Magnitude0
OMIM120160
Desc
Variant0029
Relatedalso
ClinVar
Risk rs121912909(A;A)
Alt rs121912909(A;A)
Reference rs121912909(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 0
HGVS NC_000007.13:g.94044557G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018798.25,