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rs121912901

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912901(A;A)
Make rs121912901(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position94413922
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs121912901
dbSNP (old)rs121912901
ClinGenrs121912901
ebirs121912901
HLIrs121912901
Exacrs121912901
Gnomadrs121912901
Varsomers121912901
Maprs121912901
PheGenIrs121912901
Biobankrs121912901
1000 genomesrs121912901
hgdprs121912901
ensemblrs121912901
gopubmedrs121912901
geneviewrs121912901
scholarrs121912901
googlers121912901
pharmgkbrs121912901
gwascentralrs121912901
openSNPrs121912901
23andMers121912901
23andMe allrs121912901
SNP Nexus

SNPshotrs121912901
SNPdbers121912901
MSV3drs121912901
GWAS Ctlgrs121912901
Max Magnitude0
OMIM120160
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121912901(A;A)
Alt rs121912901(A;A)
Reference Rs121912901(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 0
HGVS NC_000007.13:g.94043234G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018781.27,