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rs72645365

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72645365(G;T)
Make rs72645365(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50195656
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72645365
ebirs72645365
HLIrs72645365
Exacrs72645365
Varsomers72645365
Maprs72645365
PheGenIrs72645365
hapmaprs72645365
1000 genomesrs72645365
hgdprs72645365
ensemblrs72645365
gopubmedrs72645365
geneviewrs72645365
scholarrs72645365
googlers72645365
pharmgkbrs72645365
gwascentralrs72645365
openSNPrs72645365
23andMers72645365
23andMe allrs72645365
SNP Nexus

SNPshotrs72645365
SNPdbers72645365
MSV3drs72645365
GWAS Ctlgrs72645365
Max Magnitude0
OMIM120150
Desc
Variant0028
Relatedalso


ClinVar
Risk rs72645365(T;T)
Alt rs72645365(T;T)
Reference rs72645365(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.48273017C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018850.24,