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rs72659324

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72659324(C;C)
Make rs72659324(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position94426532
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs72659324
ebirs72659324
HLIrs72659324
Exacrs72659324
Varsomers72659324
Maprs72659324
PheGenIrs72659324
hapmaprs72659324
1000 genomesrs72659324
hgdprs72659324
ensemblrs72659324
gopubmedrs72659324
geneviewrs72659324
scholarrs72659324
googlers72659324
pharmgkbrs72659324
gwascentralrs72659324
openSNPrs72659324
23andMers72659324
23andMe allrs72659324
SNP Nexus

SNPshotrs72659324
SNPdbers72659324
MSV3drs72659324
GWAS Ctlgrs72659324
Max Magnitude0
ClinVar
Risk rs72659324(C;C)
Alt rs72659324(C;C)
Reference rs72659324(T;T)
Significance Pathogenic
Disease Osteogenesis imperfecta/Ehlers-Danlos crossover syndrome
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta/Ehlers-Danlos crossover syndrome
Reversed 0
HGVS NC_000007.13:g.94055844T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018818.25,