rs369504169

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	5	Thrombophilia due to protein C deficiency
(G;G)	0	common in clinvar

Make rs369504169(A;A)

Reference

GRCh38 38.1/142

Chromosome

2

Position

127421337

Gene

PROC

is a	snp
is	mentioned by
dbSNP	rs369504169
dbSNP (classic)	rs369504169
ClinGen	rs369504169
ebi	rs369504169
HLI	rs369504169
Exac	rs369504169
Gnomad	rs369504169
Varsome	rs369504169
LitVar	rs369504169
Map	rs369504169
PheGenI	rs369504169
Biobank	rs369504169
1000 genomes	rs369504169
hgdp	rs369504169
ensembl	rs369504169
geneview	rs369504169
scholar	rs369504169
google	rs369504169
pharmgkb	rs369504169
gwascentral	rs369504169
openSNP	rs369504169
23andMe	rs369504169
SNPshot	rs369504169
SNPdbe	rs369504169
MSV3d	rs369504169
GWAS Ctlg	rs369504169

Max Magnitude

5

[PMID 8324221]: low anticoagulant activity observed for variant

ClinVar
Risk	rs369504169(A;A)
Alt	rs369504169(A;A)
Reference	Rs369504169(G;G)
Significance	Probable-Pathogenic
Disease	Thrombophilia
Variation	info
Gene	PROC
CLNDBN	Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant
Reversed	0
HGVS	NC_000002.11:g.128178913G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000148739.1,