rs121918146

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	9	Complete protein-C deficiency; severe thrombophilia
(A;G)	3	Carrier of a thrombophilia due to protein C deficiency mutation
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

2

Position

127428485

Gene	LOC105373608, PROC

is a	snp
is	mentioned by
dbSNP	rs121918146
dbSNP (classic)	rs121918146
ClinGen	rs121918146
ebi	rs121918146
HLI	rs121918146
Exac	rs121918146
Gnomad	rs121918146
Varsome	rs121918146
LitVar	rs121918146
Map	rs121918146
PheGenI	rs121918146
Biobank	rs121918146
1000 genomes	rs121918146
hgdp	rs121918146
ensembl	rs121918146
geneview	rs121918146
scholar	rs121918146
google	rs121918146
pharmgkb	rs121918146
gwascentral	rs121918146
openSNP	rs121918146
23andMe	rs121918146
SNPshot	rs121918146
SNPdbe	rs121918146
MSV3d	rs121918146
GWAS Ctlg	rs121918146

Max Magnitude

9

aka c.925G>A (p.Ala309Thr)

23andMe name: i5003628

OMIM	612283
Desc
Variant	0007
Related	also

ClinVar
Risk	Rs121918146(A;A)
Alt	Rs121918146(A;A)
Reference	Rs121918146(G;G)
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.128186061G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000697.3,