rs387906675

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	3	Carrier of a protein-S deficiency mutation
(G;G)	9	Protein-S deficiency; severe

Reference

GRCh38 38.1/141

Chromosome

3

Position

93900830

Gene

PROS1

is a	snp
is	mentioned by
dbSNP	rs387906675
dbSNP (classic)	rs387906675
ClinGen	rs387906675
ebi	rs387906675
HLI	rs387906675
Exac	rs387906675
Gnomad	rs387906675
Varsome	rs387906675
LitVar	rs387906675
Map	rs387906675
PheGenI	rs387906675
Biobank	rs387906675
1000 genomes	rs387906675
hgdp	rs387906675
ensembl	rs387906675
geneview	rs387906675
scholar	rs387906675
google	rs387906675
pharmgkb	rs387906675
gwascentral	rs387906675
openSNP	rs387906675
23andMe	rs387906675
SNPshot	rs387906675
SNPdbe	rs387906675
MSV3d	rs387906675
GWAS Ctlg	rs387906675

Max Magnitude

9

aka c.701A>G (p.Tyr234Cys)

ClinVar
Risk	Rs387906675(G;G)
Alt	Rs387906675(G;G)
Reference	Rs387906675(A;A)
Significance	Pathogenic
Disease	Thrombophilia due to protein S deficiency
Variation	info
Gene	PROS1
CLNDBN	Thrombophilia due to protein S deficiency, autosomal recessive
Reversed	1
HGVS	NC_000003.11:g.93619674T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022727.25,