rs121918473

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 rs121918473(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

93898524

Gene

PROS1

is a	snp
is	mentioned by
dbSNP	rs121918473
dbSNP (classic)	rs121918473
ClinGen	rs121918473
ebi	rs121918473
HLI	rs121918473
Exac	rs121918473
Gnomad	rs121918473
Varsome	rs121918473
LitVar	rs121918473
Map	rs121918473
PheGenI	rs121918473
Biobank	rs121918473
1000 genomes	rs121918473
hgdp	rs121918473
ensembl	rs121918473
geneview	rs121918473
scholar	rs121918473
google	rs121918473
pharmgkb	rs121918473
gwascentral	rs121918473
openSNP	rs121918473
23andMe	rs121918473
SNPshot	rs121918473
SNPdbe	rs121918473
MSV3d	rs121918473
GWAS Ctlg	rs121918473

Max Magnitude

5

aka c.773A>G (p.Asn258Ser)

23andMe name: i5005055

OMIM	176880
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121918473(G;G)
Alt	rs121918473(G;G)
Reference	Rs121918473(A;A)
Significance	Pathogenic
Disease	Protein S deficiency
Variation	info
Gene	PROS1
CLNDBN	Protein S deficiency
Reversed	1
HGVS	NC_000003.11:g.93617368T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014245.26,