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rs199469478

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199469478(A;A)
Make rs199469478(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position127423176
GeneMIR4783, PROC
is asnp
is mentioned by
dbSNPrs199469478
dbSNP (classic)rs199469478
ClinGenrs199469478
ebirs199469478
HLIrs199469478
Exacrs199469478
Gnomadrs199469478
Varsomers199469478
LitVarrs199469478
Maprs199469478
PheGenIrs199469478
Biobankrs199469478
1000 genomesrs199469478
hgdprs199469478
ensemblrs199469478
geneviewrs199469478
scholarrs199469478
googlers199469478
pharmgkbrs199469478
gwascentralrs199469478
openSNPrs199469478
23andMers199469478
SNPshotrs199469478
SNPdbers199469478
MSV3drs199469478
GWAS Ctlgrs199469478
Max Magnitude0
ClinVar
Risk rs199469478(A;A)
Alt rs199469478(A;A)
Reference Rs199469478(G;G)
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.128180752G>A
CLNSRC
CLNACC