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rs72659345

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAAT;AAAT) 0 common in clinvar
(ATAA;ATAA) 0 common in clinvar
(I;I) 0
Make rs72659345(-;-)
Make rs72659345(-;ATAA)
ReferenceGRCh38 38.1/141
Chromosome7
Position94430293
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs72659345
ebirs72659345
HLIrs72659345
Exacrs72659345
Varsomers72659345
Maprs72659345
PheGenIrs72659345
hapmaprs72659345
1000 genomesrs72659345
hgdprs72659345
ensemblrs72659345
gopubmedrs72659345
geneviewrs72659345
scholarrs72659345
googlers72659345
pharmgkbrs72659345
gwascentralrs72659345
openSNPrs72659345
23andMers72659345
23andMe allrs72659345
SNP Nexus

SNPshotrs72659345
SNPdbers72659345
MSV3drs72659345
GWAS Ctlgrs72659345
Max Magnitude0
ClinVar
Risk rs72659345(;)
Alt rs72659345(;)
Reference rs72659345(AAAT;AAAT)
Significance Pathogenic
Disease Osteogenesis imperfecta type III
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta type III
Reversed 0
HGVS NC_000007.13:g.94059605_94059608delATAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000018776.23,