rs121918147

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

127428587

Gene	LOC105373608, PROC

is a	snp
is	mentioned by
dbSNP	rs121918147
dbSNP (classic)	rs121918147
ClinGen	rs121918147
ebi	rs121918147
HLI	rs121918147
Exac	rs121918147
Gnomad	rs121918147
Varsome	rs121918147
LitVar	rs121918147
Map	rs121918147
PheGenI	rs121918147
Biobank	rs121918147
1000 genomes	rs121918147
hgdp	rs121918147
ensembl	rs121918147
geneview	rs121918147
scholar	rs121918147
google	rs121918147
pharmgkb	rs121918147
gwascentral	rs121918147
openSNP	rs121918147
23andMe	rs121918147
SNPshot	rs121918147
SNPdbe	rs121918147
MSV3d	rs121918147
GWAS Ctlg	rs121918147

Max Magnitude

9

aka c.1027G>A (p.Gly343Ser)

23andMe name: i5003627

OMIM	612283
Desc
Variant	0008
Related	also

ClinVar
Risk	Rs121918147(A;A)
Alt	Rs121918147(A;A)
Reference	Rs121918147(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.128186163G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000698.3,