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rs72656352

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AATTC;AATTC) 0 common in clinvar
(I;I) 0
Make rs72656352(-;-)
Make rs72656352(-;AATTC)
ReferenceGRCh38 38.1/141
Chromosome17
Position50185535
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72656352
ebirs72656352
HLIrs72656352
Exacrs72656352
Varsomers72656352
Maprs72656352
PheGenIrs72656352
hapmaprs72656352
1000 genomesrs72656352
hgdprs72656352
ensemblrs72656352
gopubmedrs72656352
geneviewrs72656352
scholarrs72656352
googlers72656352
pharmgkbrs72656352
gwascentralrs72656352
openSNPrs72656352
23andMers72656352
23andMe allrs72656352
SNP Nexus

SNPshotrs72656352
SNPdbers72656352
MSV3drs72656352
GWAS Ctlgrs72656352
Max Magnitude0
ClinVar
Risk rs72656352(;)
Alt rs72656352(;)
Reference rs72656352(AATTC;AATTC)
Significance Pathogenic
Disease Osteogenesis imperfecta type I
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta type I
Reversed 1
HGVS NC_000017.10:g.48262896_48262900delGAATT
CLNSRC OMIM Allelic Variant
CLNACC RCV000018848.27,