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rs193922175

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GTG;GTG) 0 common in clinvar
Make rs193922175(-;-)
Make rs193922175(-;GTG)
ReferenceGRCh38 38.1/141
Chromosome7
Position94409377
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs193922175
ebirs193922175
HLIrs193922175
Exacrs193922175
Varsomers193922175
Maprs193922175
PheGenIrs193922175
hapmaprs193922175
1000 genomesrs193922175
hgdprs193922175
ensemblrs193922175
gopubmedrs193922175
geneviewrs193922175
scholarrs193922175
googlers193922175
pharmgkbrs193922175
gwascentralrs193922175
openSNPrs193922175
23andMers193922175
23andMe allrs193922175
SNP Nexus

SNPshotrs193922175
SNPdbers193922175
MSV3drs193922175
GWAS Ctlgrs193922175
Max Magnitude0
ClinVar
Risk rs193922175(;)
Alt rs193922175(;)
Reference rs193922175(GTG;GTG)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta
Reversed 0
HGVS NC_000007.13:g.94038689_94038691delGTG
CLNSRC ClinVar
CLNACC RCV000029614.1,