rs121918160

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

127428495

Gene	LOC105373608, PROC

is a	snp
is	mentioned by
dbSNP	rs121918160
dbSNP (classic)	rs121918160
ClinGen	rs121918160
ebi	rs121918160
HLI	rs121918160
Exac	rs121918160
Gnomad	rs121918160
Varsome	rs121918160
LitVar	rs121918160
Map	rs121918160
PheGenI	rs121918160
Biobank	rs121918160
1000 genomes	rs121918160
hgdp	rs121918160
ensembl	rs121918160
geneview	rs121918160
scholar	rs121918160
google	rs121918160
pharmgkb	rs121918160
gwascentral	rs121918160
openSNP	rs121918160
23andMe	rs121918160
SNPshot	rs121918160
SNPdbe	rs121918160
MSV3d	rs121918160
GWAS Ctlg	rs121918160

Max Magnitude

9

aka c.935C>T (p.Ser312Leu)

23andMe name: i5003614

OMIM	612283
Desc
Variant	0025
Related	also

OMIM	176860
Desc
Variant
Related	also

ClinVar
Risk	Rs121918160(T;T)
Alt	Rs121918160(T;T)
Reference	Rs121918160(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.128186071C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000715.3,