rs121918475

Orientation

minus

Stabilized

minus

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

Make rs121918475(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

93898462

Gene

PROS1

is a	snp
is	mentioned by
dbSNP	rs121918475
dbSNP (classic)	rs121918475
ClinGen	rs121918475
ebi	rs121918475
HLI	rs121918475
Exac	rs121918475
Gnomad	rs121918475
Varsome	rs121918475
LitVar	rs121918475
Map	rs121918475
PheGenI	rs121918475
Biobank	rs121918475
1000 genomes	rs121918475
hgdp	rs121918475
ensembl	rs121918475
geneview	rs121918475
scholar	rs121918475
google	rs121918475
pharmgkb	rs121918475
gwascentral	rs121918475
openSNP	rs121918475
23andMe	rs121918475
SNPshot	rs121918475
SNPdbe	rs121918475
MSV3d	rs121918475
GWAS Ctlg	rs121918475

Max Magnitude

5

aka c.835C>T (p.Gln279Ter)

23andMe name: i5005058

OMIM	176880
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121918475(T;T)
Alt	rs121918475(T;T)
Reference	Rs121918475(C;C)
Significance	Pathogenic
Disease	Protein S deficiency
Variation	info
Gene	PROS1
CLNDBN	Protein S deficiency
Reversed	1
HGVS	NC_000003.11:g.93617306G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014250.27,