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rs193302872

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193302872(C;G)
Make rs193302872(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position1775110
GeneSERPINF1
is asnp
is mentioned by
dbSNPrs193302872
ebirs193302872
HLIrs193302872
Exacrs193302872
Varsomers193302872
Maprs193302872
PheGenIrs193302872
hapmaprs193302872
1000 genomesrs193302872
hgdprs193302872
ensemblrs193302872
gopubmedrs193302872
geneviewrs193302872
scholarrs193302872
googlers193302872
pharmgkbrs193302872
gwascentralrs193302872
openSNPrs193302872
23andMers193302872
23andMe allrs193302872
SNP Nexus

SNPshotrs193302872
SNPdbers193302872
MSV3drs193302872
GWAS Ctlgrs193302872
Max Magnitude0
ClinVar
Risk rs193302872(G;G)
Alt rs193302872(G;G)
Reference rs193302872(C;C)
Significance Pathogenic
Disease Osteogenesis imperfecta type 12 not provided
Variation info
Gene SERPINF1
CLNDBN Osteogenesis imperfecta type 12 not provided
Reversed 0
HGVS NC_000017.10:g.1678404C>G
CLNSRC OMIM Allelic Variant Osteogenesis Imperfecta Variant Database (SERPINF1)
CLNACC RCV000022716.27, RCV000024545.1,