rs121918153

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 38.1/141

Chromosome

2

Position

127426208

Gene	LOC105373608, PROC

is a	snp
is	mentioned by
dbSNP	rs121918153
dbSNP (classic)	rs121918153
ClinGen	rs121918153
ebi	rs121918153
HLI	rs121918153
Exac	rs121918153
Gnomad	rs121918153
Varsome	rs121918153
LitVar	rs121918153
Map	rs121918153
PheGenI	rs121918153
Biobank	rs121918153
1000 genomes	rs121918153
hgdp	rs121918153
ensembl	rs121918153
geneview	rs121918153
scholar	rs121918153
google	rs121918153
pharmgkb	rs121918153
gwascentral	rs121918153
openSNP	rs121918153
23andMe	rs121918153
SNPshot	rs121918153
SNPdbe	rs121918153
MSV3d	rs121918153
GWAS Ctlg	rs121918153

Max Magnitude

9

aka c.659G>A (p.Arg220Gln)

23andMe name: i5003621

OMIM	612283
Desc
Variant	0014
Related	also

ClinVar
Risk	Rs121918153(A;A) rs121918153(T;T)
Alt	Rs121918153(A;A) rs121918153(T;T)
Reference	Rs121918153(G;G)
Significance	Other
Disease	Thrombophilia
Variation	info
Gene	PROC
CLNDBN	Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant
Reversed	0
HGVS	NC_000002.11:g.128183784G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000704.5,