rs118203906

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	5.5	Hemophilia A (severity varies)
(C;G)	4.1	Thrombophilia risk
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

1

Position

169555299

Gene

F5

is a	snp
is	mentioned by
dbSNP	rs118203906
dbSNP (classic)	rs118203906
ClinGen	rs118203906
ebi	rs118203906
HLI	rs118203906
Exac	rs118203906
Gnomad	rs118203906
Varsome	rs118203906
LitVar	rs118203906
Map	rs118203906
PheGenI	rs118203906
Biobank	rs118203906
1000 genomes	rs118203906
hgdp	rs118203906
ensembl	rs118203906
geneview	rs118203906
scholar	rs118203906
google	rs118203906
pharmgkb	rs118203906
gwascentral	rs118203906
openSNP	rs118203906
23andMe	rs118203906
SNPshot	rs118203906
SNPdbe	rs118203906
MSV3d	rs118203906
GWAS Ctlg	rs118203906

GMAF

0.0004591

Max Magnitude

5.5

OMIM	612309
Desc
Variant	0003
Related	also

ClinVar
Risk	Rs118203906(C;C)
Alt	Rs118203906(C;C)
Reference	Rs118203906(G;G)
Significance	Pathogenic
Disease	Thrombophilia due to activated protein C resistance
Variation	info
Gene	F5
CLNDBN	Thrombophilia due to activated protein C resistance
Reversed	1
HGVS	NC_000001.10:g.169524537C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000678.2,