rs121918145

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	4	Partial protein-C deficiency possible; higher risk for blood clotting related issues
(T;T)	7	Protein-C deficiency; autosomal recessive

Reference

GRCh38 38.1/141

Chromosome

2

Position

127426178

Gene	LOC105373608, PROC

is a	snp
is	mentioned by
dbSNP	rs121918145
dbSNP (classic)	rs121918145
ClinGen	rs121918145
ebi	rs121918145
HLI	rs121918145
Exac	rs121918145
Gnomad	rs121918145
Varsome	rs121918145
LitVar	rs121918145
Map	rs121918145
PheGenI	rs121918145
Biobank	rs121918145
1000 genomes	rs121918145
hgdp	rs121918145
ensembl	rs121918145
geneview	rs121918145
scholar	rs121918145
google	rs121918145
pharmgkb	rs121918145
gwascentral	rs121918145
openSNP	rs121918145
23andMe	rs121918145
SNPshot	rs121918145
SNPdbe	rs121918145
MSV3d	rs121918145
GWAS Ctlg	rs121918145

Max Magnitude

7

c.629C>T (p.Pro210Leu)

23andMe name: i5003629

OMIM	612283
Desc
Variant	0006
Related	also

ClinVar
Risk	Rs121918145(T;T)
Alt	Rs121918145(T;T)
Reference	Rs121918145(C;C)
Significance	Pathogenic
Disease	Thrombophilia
Variation	info
Gene	PROC
CLNDBN	Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive
Reversed	0
HGVS	NC_000002.11:g.128183754C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000696.3,