rs757583846

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.p2 38.2/144

Chromosome

2

Position

127421381

Gene

PROC

is a	snp
is	mentioned by
dbSNP	rs757583846
dbSNP (classic)	rs757583846
ClinGen	rs757583846
ebi	rs757583846
HLI	rs757583846
Exac	rs757583846
Gnomad	rs757583846
Varsome	rs757583846
LitVar	rs757583846
Map	rs757583846
PheGenI	rs757583846
Biobank	rs757583846
1000 genomes	rs757583846
hgdp	rs757583846
ensembl	rs757583846
geneview	rs757583846
scholar	rs757583846
google	rs757583846
pharmgkb	rs757583846
gwascentral	rs757583846
openSNP	rs757583846
23andMe	rs757583846
SNPshot	rs757583846
SNPdbe	rs757583846
MSV3d	rs757583846
GWAS Ctlg	rs757583846

Max Magnitude

9

aka c.169C>T (p.Arg57Trp)

23andMe name: i6017049, however, it is reported by 23andMe as testing the C>G variant (not the known, pathogenic C>T variant). The C>G variant is not recognized in dbSNP, and, it would encode a Arg>Gly change of unknown consequence.

ClinVar
Risk	Rs757583846(T;T)
Alt	Rs757583846(T;T)
Reference	Rs757583846(C;C)
Significance	Pathogenic
Disease	Thrombophilia not provided
Variation	info
Gene	PROC
CLNDBN	Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant not provided
Reversed	0
HGVS	NC_000002.11:g.128178957C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000168170.2, RCV000490205.1,