rs121918476

Orientation

minus

Stabilized

minus

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

Make rs121918476(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

93877155

Gene

PROS1

is a	snp
is	mentioned by
dbSNP	rs121918476
dbSNP (classic)	rs121918476
ClinGen	rs121918476
ebi	rs121918476
HLI	rs121918476
Exac	rs121918476
Gnomad	rs121918476
Varsome	rs121918476
LitVar	rs121918476
Map	rs121918476
PheGenI	rs121918476
Biobank	rs121918476
1000 genomes	rs121918476
hgdp	rs121918476
ensembl	rs121918476
geneview	rs121918476
scholar	rs121918476
google	rs121918476
pharmgkb	rs121918476
gwascentral	rs121918476
openSNP	rs121918476
23andMe	rs121918476
SNPshot	rs121918476
SNPdbe	rs121918476
MSV3d	rs121918476
GWAS Ctlg	rs121918476

Max Magnitude

5

aka c.1681C>G (p.Arg561Gly)

23andMe name: i5005059

OMIM	176880
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121918476(G;G) rs121918476(T;T)
Alt	rs121918476(G;G) rs121918476(T;T)
Reference	Rs121918476(C;C)
Significance	Pathogenic
Disease	Thrombophilia due to protein S deficiency Protein S deficiency
Variation	info
Gene	PROS1
CLNDBN	Thrombophilia due to protein S deficiency, autosomal recessive Protein S deficiency
Reversed	1
HGVS	NC_000003.11:g.93595999G>A; NC_000003.11:g.93595999G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000206188.1, RCV000014251.25,