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rs199469473

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199469473(C;T)
Make rs199469473(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position127429019
GeneLOC105373608, PROC
is asnp
is mentioned by
dbSNPrs199469473
dbSNP (classic)rs199469473
ClinGenrs199469473
ebirs199469473
HLIrs199469473
Exacrs199469473
Gnomadrs199469473
Varsomers199469473
LitVarrs199469473
Maprs199469473
PheGenIrs199469473
Biobankrs199469473
1000 genomesrs199469473
hgdprs199469473
ensemblrs199469473
geneviewrs199469473
scholarrs199469473
googlers199469473
pharmgkbrs199469473
gwascentralrs199469473
openSNPrs199469473
23andMers199469473
SNPshotrs199469473
SNPdbers199469473
MSV3drs199469473
GWAS Ctlgrs199469473
Max Magnitude0
ClinVar
Risk rs199469473(T;T)
Alt rs199469473(T;T)
Reference Rs199469473(C;C)
Significance Probable-Pathogenic
Disease Thrombophilia
Variation info
Gene PROC
CLNDBN Thrombophilia, hereditary, due to protein c deficiency, autosomal dominant
Reversed 0
HGVS NC_000002.11:g.128186595C>T
CLNSRC
CLNACC