rs121918155

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

127426227

Gene	LOC105373608, PROC

is a	snp
is	mentioned by
dbSNP	rs121918155
dbSNP (classic)	rs121918155
ClinGen	rs121918155
ebi	rs121918155
HLI	rs121918155
Exac	rs121918155
Gnomad	rs121918155
Varsome	rs121918155
LitVar	rs121918155
Map	rs121918155
PheGenI	rs121918155
Biobank	rs121918155
1000 genomes	rs121918155
hgdp	rs121918155
ensembl	rs121918155
geneview	rs121918155
scholar	rs121918155
google	rs121918155
pharmgkb	rs121918155
gwascentral	rs121918155
openSNP	rs121918155
23andMe	rs121918155
SNPshot	rs121918155
SNPdbe	rs121918155
MSV3d	rs121918155
GWAS Ctlg	rs121918155

Max Magnitude

9

aka c.678G>C (p.Gln226His)

23andMe name: i6016958

OMIM	612283
Desc
Variant	0019
Related	also

ClinVar
Risk	Rs121918155(C;C)
Alt	Rs121918155(C;C)
Reference	Rs121918155(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.128183803G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000709.3,