rs142742242

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	9	Complete protein-C deficiency; severe thrombophilia
(A;G)	5	Partial protein-C deficiency; higher risk for blood clotting related issues
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/142

Chromosome

2

Position

127428761

Gene	LOC105373608, PROC

is a	snp
is	mentioned by
dbSNP	rs142742242
dbSNP (classic)	rs142742242
ClinGen	rs142742242
ebi	rs142742242
HLI	rs142742242
Exac	rs142742242
Gnomad	rs142742242
Varsome	rs142742242
LitVar	rs142742242
Map	rs142742242
PheGenI	rs142742242
Biobank	rs142742242
1000 genomes	rs142742242
hgdp	rs142742242
ensembl	rs142742242
geneview	rs142742242
scholar	rs142742242
google	rs142742242
pharmgkb	rs142742242
gwascentral	rs142742242
openSNP	rs142742242
23andMe	rs142742242
SNPshot	rs142742242
SNPdbe	rs142742242
MSV3d	rs142742242
GWAS Ctlg	rs142742242

Max Magnitude

9

aka c.1201G>A (p.Asp401Asn)

23andMe name: i6016977

ClinVar
Risk	Rs142742242(A;A)
Alt	Rs142742242(A;A)
Reference	Rs142742242(G;G)
Significance	Pathogenic
Disease	Thrombophilia
Variation	info
Gene	PROC
CLNDBN	Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant
Reversed	0
HGVS	NC_000002.11:g.128186337G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000148740.2,