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rs199469480

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199469480(A;T)
Make rs199469480(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position127428540
GeneLOC105373608, PROC
is asnp
is mentioned by
dbSNPrs199469480
dbSNP (classic)rs199469480
ClinGenrs199469480
ebirs199469480
HLIrs199469480
Exacrs199469480
Gnomadrs199469480
Varsomers199469480
LitVarrs199469480
Maprs199469480
PheGenIrs199469480
Biobankrs199469480
1000 genomesrs199469480
hgdprs199469480
ensemblrs199469480
geneviewrs199469480
scholarrs199469480
googlers199469480
pharmgkbrs199469480
gwascentralrs199469480
openSNPrs199469480
23andMers199469480
SNPshotrs199469480
SNPdbers199469480
MSV3drs199469480
GWAS Ctlgrs199469480
Max Magnitude0
ClinVar
Risk rs199469480(T;T)
Alt rs199469480(T;T)
Reference Rs199469480(A;A)
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.128186116A>T
CLNSRC
CLNACC