rs121918158

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	9	Complete protein-C deficiency; severe thrombophilia
(A;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

127428575

Gene	LOC105373608, PROC

is a	snp
is	mentioned by
dbSNP	rs121918158
dbSNP (classic)	rs121918158
ClinGen	rs121918158
ebi	rs121918158
HLI	rs121918158
Exac	rs121918158
Gnomad	rs121918158
Varsome	rs121918158
LitVar	rs121918158
Map	rs121918158
PheGenI	rs121918158
Biobank	rs121918158
1000 genomes	rs121918158
hgdp	rs121918158
ensembl	rs121918158
geneview	rs121918158
scholar	rs121918158
google	rs121918158
pharmgkb	rs121918158
gwascentral	rs121918158
openSNP	rs121918158
23andMe	rs121918158
SNPshot	rs121918158
SNPdbe	rs121918158
MSV3d	rs121918158
GWAS Ctlg	rs121918158

Max Magnitude

9

aka c.1015G>A (p.Val339Met)

OMIM	612283
Desc
Variant	0022
Related	also

ClinVar
Risk	Rs121918158(A;A)
Alt	Rs121918158(A;A)
Reference	Rs121918158(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.128186151G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000712.3,