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rs121918152

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 Partial protein-C deficiency; higher risk for blood clotting related issues
(T;T) 9 Complete protein-C deficiency; severe thrombophilia
ReferenceGRCh38 38.1/141
Chromosome2
Position127426207
GeneLOC105373608, PROC
is asnp
is mentioned by
dbSNPrs121918152
dbSNP (old)rs121918152
ClinGenrs121918152
ebirs121918152
HLIrs121918152
Exacrs121918152
Gnomadrs121918152
Varsomers121918152
Maprs121918152
PheGenIrs121918152
Biobankrs121918152
1000 genomesrs121918152
hgdprs121918152
ensemblrs121918152
gopubmedrs121918152
geneviewrs121918152
scholarrs121918152
googlers121918152
pharmgkbrs121918152
gwascentralrs121918152
openSNPrs121918152
23andMers121918152
23andMe allrs121918152
SNPshotrs121918152
SNPdbers121918152
MSV3drs121918152
GWAS Ctlgrs121918152
Max Magnitude9

aka c.658C>T (p.Arg220Trp)

23andMe name: i5003622

OMIM612283
Desc
Variant0013
Relatedalso
OMIM176860
Desc
Variant
Relatedalso
ClinVar
Risk Rs121918152(T;T)
Alt Rs121918152(T;T)
Reference Rs121918152(C;C)
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.128183783C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000703.4,