rs146922325

plus

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)	8	Complete protein-C deficiency; severe thrombophilia

Reference

GRCh38 38.1/141

Chromosome

2

Position

127426114

Gene	LOC105373608, PROC

is a	snp
is	mentioned by
dbSNP	rs146922325
dbSNP (classic)	rs146922325
ClinGen	rs146922325
ebi	rs146922325
HLI	rs146922325
Exac	rs146922325
Gnomad	rs146922325
Varsome	rs146922325
LitVar	rs146922325
Map	rs146922325
PheGenI	rs146922325
Biobank	rs146922325
1000 genomes	rs146922325
hgdp	rs146922325
ensembl	rs146922325
geneview	rs146922325
scholar	rs146922325
google	rs146922325
pharmgkb	rs146922325
gwascentral	rs146922325
openSNP	rs146922325
23andMe	rs146922325
SNPshot	rs146922325
SNPdbe	rs146922325
MSV3d	rs146922325
GWAS Ctlg	rs146922325

GMAF

0.001837

Max Magnitude

8

aka c.565C>T, p.Arg189Trp, R189W

The rs146922325(T) mutation may be the most frequent pathogenic variant associated with venous thromboembolism in East Asian (including Chinese) populations.[PMID 22545135 ]

ClinVar
Risk	Rs146922325(T;T)
Alt	Rs146922325(T;T)
Reference	Rs146922325(C;C)
Significance	Other
Disease	Thrombophilia
Variation	info
Gene	PROC
CLNDBN	Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant
Reversed	0
HGVS	NC_000002.11:g.128183690C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000148748.2,