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rs72648356

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72648356(A;A)
Make rs72648356(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50194365
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72648356
ebirs72648356
HLIrs72648356
Exacrs72648356
Varsomers72648356
Maprs72648356
PheGenIrs72648356
hapmaprs72648356
1000 genomesrs72648356
hgdprs72648356
ensemblrs72648356
gopubmedrs72648356
geneviewrs72648356
scholarrs72648356
googlers72648356
pharmgkbrs72648356
gwascentralrs72648356
openSNPrs72648356
23andMers72648356
23andMe allrs72648356
SNP Nexus

SNPshotrs72648356
SNPdbers72648356
MSV3drs72648356
GWAS Ctlgrs72648356
Max Magnitude0
OMIM120150
Desc
Variant0047
Relatedalso


ClinVar
Risk rs72648356(A;A)
Alt rs72648356(A;A)
Reference rs72648356(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 1
HGVS NC_000017.10:g.48271726C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018870.27,