rs121918154

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

127428374

Gene	LOC105373608, PROC

is a	snp
is	mentioned by
dbSNP	rs121918154
dbSNP (classic)	rs121918154
ClinGen	rs121918154
ebi	rs121918154
HLI	rs121918154
Exac	rs121918154
Gnomad	rs121918154
Varsome	rs121918154
LitVar	rs121918154
Map	rs121918154
PheGenI	rs121918154
Biobank	rs121918154
1000 genomes	rs121918154
hgdp	rs121918154
ensembl	rs121918154
geneview	rs121918154
scholar	rs121918154
google	rs121918154
pharmgkb	rs121918154
gwascentral	rs121918154
openSNP	rs121918154
23andMe	rs121918154
SNPshot	rs121918154
SNPdbe	rs121918154
MSV3d	rs121918154
GWAS Ctlg	rs121918154

Max Magnitude

9

aka c.814C>T (p.Arg272Cys)

23andMe name: i5003620

OMIM	612283
Desc
Variant	0016
Related	also

ClinVar
Risk	Rs121918154(T;T)
Alt	Rs121918154(T;T)
Reference	Rs121918154(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.128185950C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000706.3,