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rs121918144

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918144(C;T)
Make rs121918144(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position127428462
GenePROC
is asnp
is mentioned by
dbSNPrs121918144
ebirs121918144
HLIrs121918144
Exacrs121918144
Varsomers121918144
Maprs121918144
PheGenIrs121918144
hapmaprs121918144
1000 genomesrs121918144
hgdprs121918144
ensemblrs121918144
gopubmedrs121918144
geneviewrs121918144
scholarrs121918144
googlers121918144
pharmgkbrs121918144
gwascentralrs121918144
openSNPrs121918144
23andMers121918144
23andMe allrs121918144
SNP Nexus

SNPshotrs121918144
SNPdbers121918144
MSV3drs121918144
GWAS Ctlgrs121918144
Max Magnitude0
OMIM612283
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918144(T;T)
Alt rs121918144(T;T)
Reference rs121918144(C;C)
Significance Pathogenic
Disease Thrombophilia
Variation info
Gene PROC
CLNDBN Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive
Reversed 0
HGVS NC_000002.11:g.128186038C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000695.3,