rs121918152

Orientation

plus

Stabilized

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)	9	Complete protein-C deficiency; severe thrombophilia

Reference

GRCh38 38.1/141

Chromosome

2

Position

127426207

Gene	LOC105373608, PROC

is a	snp
is	mentioned by
dbSNP	rs121918152
dbSNP (classic)	rs121918152
ClinGen	rs121918152
ebi	rs121918152
HLI	rs121918152
Exac	rs121918152
Gnomad	rs121918152
Varsome	rs121918152
LitVar	rs121918152
Map	rs121918152
PheGenI	rs121918152
Biobank	rs121918152
1000 genomes	rs121918152
hgdp	rs121918152
ensembl	rs121918152
geneview	rs121918152
scholar	rs121918152
google	rs121918152
pharmgkb	rs121918152
gwascentral	rs121918152
openSNP	rs121918152
23andMe	rs121918152
SNPshot	rs121918152
SNPdbe	rs121918152
MSV3d	rs121918152
GWAS Ctlg	rs121918152

Max Magnitude

9

aka c.658C>T (p.Arg220Trp)

23andMe name: i5003622

OMIM	612283
Desc
Variant	0013
Related	also

OMIM	176860
Desc
Variant
Related	also

ClinVar
Risk	Rs121918152(T;T)
Alt	Rs121918152(T;T)
Reference	Rs121918152(C;C)
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.128183783C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000703.4,