rs121918141

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

127428602

Gene	LOC105373608, PROC

is a	snp
is	mentioned by
dbSNP	rs121918141
dbSNP (classic)	rs121918141
ClinGen	rs121918141
ebi	rs121918141
HLI	rs121918141
Exac	rs121918141
Gnomad	rs121918141
Varsome	rs121918141
LitVar	rs121918141
Map	rs121918141
PheGenI	rs121918141
Biobank	rs121918141
1000 genomes	rs121918141
hgdp	rs121918141
ensembl	rs121918141
geneview	rs121918141
scholar	rs121918141
google	rs121918141
pharmgkb	rs121918141
gwascentral	rs121918141
openSNP	rs121918141
23andMe	rs121918141
SNPshot	rs121918141
SNPdbe	rs121918141
MSV3d	rs121918141
GWAS Ctlg	rs121918141

Max Magnitude

9

aka c.1042C>T (p.Arg348Ter)

23andMe name: i6016968

OMIM	612283
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs121918141(T;T)
Alt	Rs121918141(T;T)
Reference	Rs121918141(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.128186178C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000690.4,