rs121918143

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

127426180

Gene	LOC105373608, PROC

is a	snp
is	mentioned by
dbSNP	rs121918143
dbSNP (classic)	rs121918143
ClinGen	rs121918143
ebi	rs121918143
HLI	rs121918143
Exac	rs121918143
Gnomad	rs121918143
Varsome	rs121918143
LitVar	rs121918143
Map	rs121918143
PheGenI	rs121918143
Biobank	rs121918143
1000 genomes	rs121918143
hgdp	rs121918143
ensembl	rs121918143
geneview	rs121918143
scholar	rs121918143
google	rs121918143
pharmgkb	rs121918143
gwascentral	rs121918143
openSNP	rs121918143
23andMe	rs121918143
SNPshot	rs121918143
SNPdbe	rs121918143
MSV3d	rs121918143
GWAS Ctlg	rs121918143

Merged from

Rs28933986

Max Magnitude

9

aka c.631C>T (p.Arg211Trp)

OMIM	612283
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121918143(A;A) Rs121918143(T;T)
Alt	rs121918143(A;A) Rs121918143(T;T)
Reference	Rs121918143(C;C)
Significance	Other
Disease	Thrombophilia
Variation	info
Gene	PROC
CLNDBN	Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive
Reversed	0
HGVS	NC_000002.11:g.128183756C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000693.6, RCV000000694.4,