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rs199469483

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199469483(A;A)
Make rs199469483(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position127426218
GeneLOC105373608, PROC
is asnp
is mentioned by
dbSNPrs199469483
dbSNP (classic)rs199469483
ClinGenrs199469483
ebirs199469483
HLIrs199469483
Exacrs199469483
Gnomadrs199469483
Varsomers199469483
LitVarrs199469483
Maprs199469483
PheGenIrs199469483
Biobankrs199469483
1000 genomesrs199469483
hgdprs199469483
ensemblrs199469483
geneviewrs199469483
scholarrs199469483
googlers199469483
pharmgkbrs199469483
gwascentralrs199469483
openSNPrs199469483
23andMers199469483
SNPshotrs199469483
SNPdbers199469483
MSV3drs199469483
GWAS Ctlgrs199469483
Max Magnitude0
ClinVar
Risk rs199469483(A;A)
Alt rs199469483(A;A)
Reference Rs199469483(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.128183794C>A
CLNSRC
CLNACC