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rs398122519

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs398122519(-;T)
Make rs398122519(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position1762115
GeneSERPINF1
is asnp
is mentioned by
dbSNPrs398122519
dbSNP (classic)rs398122519
ClinGenrs398122519
ebirs398122519
HLIrs398122519
Exacrs398122519
Gnomadrs398122519
Varsomers398122519
LitVarrs398122519
Maprs398122519
PheGenIrs398122519
Biobankrs398122519
1000 genomesrs398122519
hgdprs398122519
ensemblrs398122519
geneviewrs398122519
scholarrs398122519
googlers398122519
pharmgkbrs398122519
gwascentralrs398122519
openSNPrs398122519
23andMers398122519
SNPshotrs398122519
SNPdbers398122519
MSV3drs398122519
GWAS Ctlgrs398122519
Max Magnitude0
ClinVar
Risk rs398122519(T;T)
Alt rs398122519(T;T)
Reference Rs398122519(-;-)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene SERPINF1
CLNDBN Osteogenesis imperfecta, type VI
Reversed 0
HGVS NC_000017.10:g.1665409dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000034819.26,