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rs199469471

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199469471(C;C)
Make rs199469471(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position127428449
GeneLOC105373608, PROC
is asnp
is mentioned by
dbSNPrs199469471
dbSNP (classic)rs199469471
ClinGenrs199469471
ebirs199469471
HLIrs199469471
Exacrs199469471
Gnomadrs199469471
Varsomers199469471
LitVarrs199469471
Maprs199469471
PheGenIrs199469471
Biobankrs199469471
1000 genomesrs199469471
hgdprs199469471
ensemblrs199469471
geneviewrs199469471
scholarrs199469471
googlers199469471
pharmgkbrs199469471
gwascentralrs199469471
openSNPrs199469471
23andMers199469471
SNPshotrs199469471
SNPdbers199469471
MSV3drs199469471
GWAS Ctlgrs199469471
Max Magnitude0
ClinVar
Risk rs199469471(C;C)
Alt rs199469471(C;C)
Reference Rs199469471(G;G)
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.128186025G>C
CLNSRC
CLNACC