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rs199469479

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199469479(G;G)
Make rs199469479(G;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position127423087
GeneMIR4783, PROC
is asnp
is mentioned by
dbSNPrs199469479
dbSNP (classic)rs199469479
ClinGenrs199469479
ebirs199469479
HLIrs199469479
Exacrs199469479
Gnomadrs199469479
Varsomers199469479
LitVarrs199469479
Maprs199469479
PheGenIrs199469479
Biobankrs199469479
1000 genomesrs199469479
hgdprs199469479
ensemblrs199469479
geneviewrs199469479
scholarrs199469479
googlers199469479
pharmgkbrs199469479
gwascentralrs199469479
openSNPrs199469479
23andMers199469479
SNPshotrs199469479
SNPdbers199469479
MSV3drs199469479
GWAS Ctlgrs199469479
Max Magnitude0
ClinVar
Risk rs199469479(G;G)
Alt rs199469479(G;G)
Reference Rs199469479(T;T)
Significance Probable-Pathogenic
Disease Thrombophilia
Variation info
Gene PROC MIR4783
CLNDBN Thrombophilia, hereditary, due to protein c deficiency, autosomal dominant
Reversed 0
HGVS NC_000002.11:g.128180663T>G
CLNSRC
CLNACC