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rs72656331

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72656331(G;T)
Make rs72656331(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50186903
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72656331
ebirs72656331
HLIrs72656331
Exacrs72656331
Varsomers72656331
Maprs72656331
PheGenIrs72656331
hapmaprs72656331
1000 genomesrs72656331
hgdprs72656331
ensemblrs72656331
gopubmedrs72656331
geneviewrs72656331
scholarrs72656331
googlers72656331
pharmgkbrs72656331
gwascentralrs72656331
openSNPrs72656331
23andMers72656331
23andMe allrs72656331
SNP Nexus

SNPshotrs72656331
SNPdbers72656331
MSV3drs72656331
GWAS Ctlgrs72656331
Max Magnitude0
OMIM120150
Desc
Variant0035
Relatedalso
ClinVar
Risk rs72656331(T;T)
Alt rs72656331(T;T)
Reference rs72656331(G;G)
Significance Pathogenic
Disease OSTEOGENESIS IMPERFECTA
Variation info
Gene COL1A1
CLNDBN OSTEOGENESIS IMPERFECTA, TYPE IIC
Reversed 1
HGVS NC_000017.10:g.48264264C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018858.28,