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rs398122835

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398122835(-;-)
Make rs398122835(-;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position50185779
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs398122835
ebirs398122835
HLIrs398122835
Exacrs398122835
Varsomers398122835
Maprs398122835
PheGenIrs398122835
hapmaprs398122835
1000 genomesrs398122835
hgdprs398122835
ensemblrs398122835
gopubmedrs398122835
geneviewrs398122835
scholarrs398122835
googlers398122835
pharmgkbrs398122835
gwascentralrs398122835
openSNPrs398122835
23andMers398122835
23andMe allrs398122835
SNP Nexus

SNPshotrs398122835
SNPdbers398122835
MSV3drs398122835
GWAS Ctlgrs398122835
Max Magnitude0
ClinVar
Risk rs398122835(;)
Alt rs398122835(;)
Reference rs398122835(C;C)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 1
HGVS NC_000017.10:g.48263140delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000034354.29,