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rs66527965

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs66527965(A;A)
Make rs66527965(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50193038
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs66527965
ebirs66527965
HLIrs66527965
Exacrs66527965
Varsomers66527965
Maprs66527965
PheGenIrs66527965
hapmaprs66527965
1000 genomesrs66527965
hgdprs66527965
ensemblrs66527965
gopubmedrs66527965
geneviewrs66527965
scholarrs66527965
googlers66527965
pharmgkbrs66527965
gwascentralrs66527965
openSNPrs66527965
23andMers66527965
23andMe allrs66527965
SNP Nexus

SNPshotrs66527965
SNPdbers66527965
MSV3drs66527965
GWAS Ctlgrs66527965
Max Magnitude0
OMIM120150
Desc
Variant0033
Relatedalso
OMIM120150
Desc
Variant0044
Relatedalso
ClinVar
Risk rs66527965(A,T;A,T)
Alt rs66527965(A,T;A,T)
Reference rs66527965(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta, type III/iv Osteogenesis imperfecta, recessive perinatal lethal
Reversed 1
HGVS NC_000017.10:g.48270399C>A; NC_000017.10:g.48270399C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018856.28, RCV000018867.27,