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rs199469472

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199469472(G;T)
Make rs199469472(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position127428818
GeneLOC105373608, PROC
is asnp
is mentioned by
dbSNPrs199469472
dbSNP (classic)rs199469472
ClinGenrs199469472
ebirs199469472
HLIrs199469472
Exacrs199469472
Gnomadrs199469472
Varsomers199469472
LitVarrs199469472
Maprs199469472
PheGenIrs199469472
Biobankrs199469472
1000 genomesrs199469472
hgdprs199469472
ensemblrs199469472
geneviewrs199469472
scholarrs199469472
googlers199469472
pharmgkbrs199469472
gwascentralrs199469472
openSNPrs199469472
23andMers199469472
SNPshotrs199469472
SNPdbers199469472
MSV3drs199469472
GWAS Ctlgrs199469472
Max Magnitude0
ClinVar
Risk rs199469472(T;T)
Alt rs199469472(T;T)
Reference Rs199469472(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.128186394G>T
CLNSRC
CLNACC