rs121918157

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	5	Partial protein-C deficiency; higher risk for blood clotting related issues
(G;G)	9	Complete protein-C deficiency; severe thrombophilia

Reference

GRCh38 38.1/141

Chromosome

2

Position

127428895

Gene	LOC105373608, PROC

is a	snp
is	mentioned by
dbSNP	rs121918157
dbSNP (classic)	rs121918157
ClinGen	rs121918157
ebi	rs121918157
HLI	rs121918157
Exac	rs121918157
Gnomad	rs121918157
Varsome	rs121918157
LitVar	rs121918157
Map	rs121918157
PheGenI	rs121918157
Biobank	rs121918157
1000 genomes	rs121918157
hgdp	rs121918157
ensembl	rs121918157
geneview	rs121918157
scholar	rs121918157
google	rs121918157
pharmgkb	rs121918157
gwascentral	rs121918157
openSNP	rs121918157
23andMe	rs121918157
SNPshot	rs121918157
SNPdbe	rs121918157
MSV3d	rs121918157
GWAS Ctlg	rs121918157

Max Magnitude

9

aka c.1335C>G (p.Ile445Met)

OMIM	612283
Desc
Variant	0021
Related	also

ClinVar
Risk	Rs121918157(G;G)
Alt	Rs121918157(G;G)
Reference	Rs121918157(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.128186471C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000711.4,