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rs199988476

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199988476(C;T)
Make rs199988476(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position177402460
GeneF12, PFN3
is asnp
is mentioned by
dbSNPrs199988476
ebirs199988476
HLIrs199988476
Exacrs199988476
Varsomers199988476
Maprs199988476
PheGenIrs199988476
hapmaprs199988476
1000 genomesrs199988476
hgdprs199988476
ensemblrs199988476
gopubmedrs199988476
geneviewrs199988476
scholarrs199988476
googlers199988476
pharmgkbrs199988476
gwascentralrs199988476
openSNPrs199988476
23andMers199988476
23andMe allrs199988476
SNP Nexus

SNPshotrs199988476
SNPdbers199988476
MSV3drs199988476
GWAS Ctlgrs199988476
Max Magnitude0
ClinVar
Risk rs199988476(G,T;G,T)
Alt rs199988476(G,T;G,T)
Reference rs199988476(C;C)
Significance Pathogenic
Disease Factor XII deficiency disease
Variation info
Gene F12 PFN3
CLNDBN Factor XII deficiency disease
Reversed 0
HGVS NC_000005.9:g.176829461C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001225.3,