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rs121918142

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 9 Complete protein-C deficiency; severe thrombophilia
(C;G) 5 Partial protein-C deficiency; higher risk for blood clotting related issues
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome2
Position127428892
GeneLOC105373608, PROC
is asnp
is mentioned by
dbSNPrs121918142
dbSNP (old)rs121918142
ClinGenrs121918142
ebirs121918142
HLIrs121918142
Exacrs121918142
Gnomadrs121918142
Varsomers121918142
Maprs121918142
PheGenIrs121918142
Biobankrs121918142
1000 genomesrs121918142
hgdprs121918142
ensemblrs121918142
gopubmedrs121918142
geneviewrs121918142
scholarrs121918142
googlers121918142
pharmgkbrs121918142
gwascentralrs121918142
openSNPrs121918142
23andMers121918142
23andMe allrs121918142
SNPshotrs121918142
SNPdbers121918142
MSV3drs121918142
GWAS Ctlgrs121918142
Max Magnitude9

aka c.1332G>C (p.Trp444Cys)

23andMe name: i6017101

OMIM612283
Desc
Variant0002
Relatedalso
ClinVar
Risk Rs121918142(C;C)
Alt Rs121918142(C;C)
Reference Rs121918142(G;G)
Significance Pathogenic
Disease Thrombophilia
Variation info
Gene PROC
CLNDBN Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant
Reversed 0
HGVS NC_000002.11:g.128186468G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000691.3,