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rs797045033

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045033(A;A)
Make rs797045033(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position50189239
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs797045033
ebirs797045033
HLIrs797045033
Exacrs797045033
Varsomers797045033
Maprs797045033
PheGenIrs797045033
hapmaprs797045033
1000 genomesrs797045033
hgdprs797045033
ensemblrs797045033
gopubmedrs797045033
geneviewrs797045033
scholarrs797045033
googlers797045033
pharmgkbrs797045033
gwascentralrs797045033
openSNPrs797045033
23andMers797045033
23andMe allrs797045033
SNP Nexus

SNPshotrs797045033
SNPdbers797045033
MSV3drs797045033
GWAS Ctlgrs797045033
Max Magnitude0
ClinVar
Risk rs797045033(A;A)
Alt rs797045033(A;A)
Reference rs797045033(G;G)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta type I
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta type I
Reversed 1
HGVS NC_000017.10:g.48266600C>T
CLNSRC Baylor College of Medicine
CLNACC RCV000191071.1,