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rs72653170

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72653170(C;T)
Make rs72653170(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50188908
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72653170
ebirs72653170
HLIrs72653170
Exacrs72653170
Varsomers72653170
Maprs72653170
PheGenIrs72653170
hapmaprs72653170
1000 genomesrs72653170
hgdprs72653170
ensemblrs72653170
gopubmedrs72653170
geneviewrs72653170
scholarrs72653170
googlers72653170
pharmgkbrs72653170
gwascentralrs72653170
openSNPrs72653170
23andMers72653170
23andMe allrs72653170
SNP Nexus

SNPshotrs72653170
SNPdbers72653170
MSV3drs72653170
GWAS Ctlgrs72653170
Max Magnitude0
OMIM120150
Desc
Variant0063
Relatedalso


ClinVar
Risk rs72653170(T;T)
Alt rs72653170(T;T)
Reference rs72653170(C;C)
Significance Pathogenic
Disease Infantile cortical hyperostosis
Variation info
Gene COL1A1
CLNDBN Infantile cortical hyperostosis
Reversed 1
HGVS NC_000017.10:g.48266269G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018889.24,