rs121918474

Orientation

minus

Stabilized

minus

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

Make rs121918474(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

93905799

Gene

PROS1

is a	snp
is	mentioned by
dbSNP	rs121918474
dbSNP (classic)	rs121918474
ClinGen	rs121918474
ebi	rs121918474
HLI	rs121918474
Exac	rs121918474
Gnomad	rs121918474
Varsome	rs121918474
LitVar	rs121918474
Map	rs121918474
PheGenI	rs121918474
Biobank	rs121918474
1000 genomes	rs121918474
hgdp	rs121918474
ensembl	rs121918474
geneview	rs121918474
scholar	rs121918474
google	rs121918474
pharmgkb	rs121918474
gwascentral	rs121918474
openSNP	rs121918474
23andMe	rs121918474
SNPshot	rs121918474
SNPdbe	rs121918474
MSV3d	rs121918474
GWAS Ctlg	rs121918474

GMAF

0.0004591

Max Magnitude

5

aka c.586A>G (p.Lys196Glu)

23andMe name: i5005056

OMIM	176880
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121918474(G;G)
Alt	rs121918474(G;G)
Reference	Rs121918474(A;A)
Significance	Pathogenic
Disease	Protein S deficiency
Variation	info
Gene	PROS1
CLNDBN	Protein S deficiency
Reversed	1
HGVS	NC_000003.11:g.93624643T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014246.27,