rs121918142

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

2

Position

127428892

Gene	LOC105373608, PROC

is a	snp
is	mentioned by
dbSNP	rs121918142
dbSNP (classic)	rs121918142
ClinGen	rs121918142
ebi	rs121918142
HLI	rs121918142
Exac	rs121918142
Gnomad	rs121918142
Varsome	rs121918142
LitVar	rs121918142
Map	rs121918142
PheGenI	rs121918142
Biobank	rs121918142
1000 genomes	rs121918142
hgdp	rs121918142
ensembl	rs121918142
geneview	rs121918142
scholar	rs121918142
google	rs121918142
pharmgkb	rs121918142
gwascentral	rs121918142
openSNP	rs121918142
23andMe	rs121918142
SNPshot	rs121918142
SNPdbe	rs121918142
MSV3d	rs121918142
GWAS Ctlg	rs121918142

Max Magnitude

9

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

23andMe name: i6017101

OMIM	612283
Desc
Variant	0002
Related	also

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,