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rs72654802

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72654802(A;A)
Make rs72654802(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50188122
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72654802
ebirs72654802
HLIrs72654802
Exacrs72654802
Varsomers72654802
Maprs72654802
PheGenIrs72654802
hapmaprs72654802
1000 genomesrs72654802
hgdprs72654802
ensemblrs72654802
gopubmedrs72654802
geneviewrs72654802
scholarrs72654802
googlers72654802
pharmgkbrs72654802
gwascentralrs72654802
openSNPrs72654802
23andMers72654802
23andMe allrs72654802
SNP Nexus

SNPshotrs72654802
SNPdbers72654802
MSV3drs72654802
GWAS Ctlgrs72654802
Max Magnitude0
OMIM120150
Desc
Variant0040
Relatedalso
ClinVar
Risk rs72654802(A;A)
Alt rs72654802(A;A)
Reference rs72654802(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta type I
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta type I
Reversed 1
HGVS NC_000017.10:g.48265483C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018863.27,