rs118203911

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

169552693

Gene

F5

is a	snp
is	mentioned by
dbSNP	rs118203911
dbSNP (classic)	rs118203911
ClinGen	rs118203911
ebi	rs118203911
HLI	rs118203911
Exac	rs118203911
Gnomad	rs118203911
Varsome	rs118203911
LitVar	rs118203911
Map	rs118203911
PheGenI	rs118203911
Biobank	rs118203911
1000 genomes	rs118203911
hgdp	rs118203911
ensembl	rs118203911
geneview	rs118203911
scholar	rs118203911
google	rs118203911
pharmgkb	rs118203911
gwascentral	rs118203911
openSNP	rs118203911
23andMe	rs118203911
SNPshot	rs118203911
SNPdbe	rs118203911
MSV3d	rs118203911
GWAS Ctlg	rs118203911

Max Magnitude

5.5

OMIM	612309
Desc
Variant	0013
Related	also

ClinVar
Risk	Rs118203911(C;C)
Alt	Rs118203911(C;C)
Reference	Rs118203911(T;T)
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.169521931A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000689.2,