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rs193302873

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193302873(C;T)
Make rs193302873(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position1777321
GeneSERPINF1
is asnp
is mentioned by
dbSNPrs193302873
ebirs193302873
HLIrs193302873
Exacrs193302873
Varsomers193302873
Maprs193302873
PheGenIrs193302873
hapmaprs193302873
1000 genomesrs193302873
hgdprs193302873
ensemblrs193302873
gopubmedrs193302873
geneviewrs193302873
scholarrs193302873
googlers193302873
pharmgkbrs193302873
gwascentralrs193302873
openSNPrs193302873
23andMers193302873
23andMe allrs193302873
SNP Nexus

SNPshotrs193302873
SNPdbers193302873
MSV3drs193302873
GWAS Ctlgrs193302873
Max Magnitude0
ClinVar
Risk rs193302873(T;T)
Alt rs193302873(T;T)
Reference rs193302873(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.1680615C>T
CLNSRC OMIM Allelic Variant Osteogenesis Imperfecta Variant Database (SERPINF1)
CLNACC RCV000022718.27, RCV000024547.1,