rs121918149

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

127421438

Gene

PROC

is a	snp
is	mentioned by
dbSNP	rs121918149
dbSNP (classic)	rs121918149
ClinGen	rs121918149
ebi	rs121918149
HLI	rs121918149
Exac	rs121918149
Gnomad	rs121918149
Varsome	rs121918149
LitVar	rs121918149
Map	rs121918149
PheGenI	rs121918149
Biobank	rs121918149
1000 genomes	rs121918149
hgdp	rs121918149
ensembl	rs121918149
geneview	rs121918149
scholar	rs121918149
google	rs121918149
pharmgkb	rs121918149
gwascentral	rs121918149
openSNP	rs121918149
23andMe	rs121918149
SNPshot	rs121918149
SNPdbe	rs121918149
MSV3d	rs121918149
GWAS Ctlg	rs121918149

Max Magnitude

9

aka c.226G>A (p.Val76Met)

23andMe name: i5003625

OMIM	612283
Desc
Variant	0010
Related	also

ClinVar
Risk	Rs121918149(A;A)
Alt	Rs121918149(A;A)
Reference	Rs121918149(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.128179014G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000700.4,