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rs398122520

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398122520(-;-)
Make rs398122520(-;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position1775067
GeneSERPINF1
is asnp
is mentioned by
dbSNPrs398122520
dbSNP (classic)rs398122520
ClinGenrs398122520
ebirs398122520
HLIrs398122520
Exacrs398122520
Gnomadrs398122520
Varsomers398122520
LitVarrs398122520
Maprs398122520
PheGenIrs398122520
Biobankrs398122520
1000 genomesrs398122520
hgdprs398122520
ensemblrs398122520
geneviewrs398122520
scholarrs398122520
googlers398122520
pharmgkbrs398122520
gwascentralrs398122520
openSNPrs398122520
23andMers398122520
SNPshotrs398122520
SNPdbers398122520
MSV3drs398122520
GWAS Ctlgrs398122520
Max Magnitude0
ClinVar
Risk rs398122520(-;-)
Alt rs398122520(-;-)
Reference Rs398122520(T;T)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene SERPINF1
CLNDBN Osteogenesis imperfecta, type VI
Reversed 0
HGVS NC_000017.10:g.1678361delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000034820.21,