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rs72656353

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(T;T) 0 common in clinvar
Make rs72656353(C;C)
Make rs72656353(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50185506
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72656353
ebirs72656353
HLIrs72656353
Exacrs72656353
Varsomers72656353
Maprs72656353
PheGenIrs72656353
hapmaprs72656353
1000 genomesrs72656353
hgdprs72656353
ensemblrs72656353
gopubmedrs72656353
geneviewrs72656353
scholarrs72656353
googlers72656353
pharmgkbrs72656353
gwascentralrs72656353
openSNPrs72656353
23andMers72656353
23andMe allrs72656353
SNP Nexus

SNPshotrs72656353
SNPdbers72656353
MSV3drs72656353
GWAS Ctlgrs72656353
Max Magnitude0
ClinVar
Risk rs72656353(C;C)
Alt rs72656353(C;C)
Reference rs72656353(T;T)
Significance Pathogenic
Disease Osteogenesis imperfecta type III
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta type III
Reversed 1
HGVS NC_000017.10:g.48262867A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018873.27,