rs137852405

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	5.5	Hemophilia A (severity varies)
(C;T)	3.5	Carrier of a Hemophilia A mutation
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

X

Position

154969405

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852405
dbSNP (classic)	rs137852405
ClinGen	rs137852405
ebi	rs137852405
HLI	rs137852405
Exac	rs137852405
Gnomad	rs137852405
Varsome	rs137852405
LitVar	rs137852405
Map	rs137852405
PheGenI	rs137852405
Biobank	rs137852405
1000 genomes	rs137852405
hgdp	rs137852405
ensembl	rs137852405
geneview	rs137852405
scholar	rs137852405
google	rs137852405
pharmgkb	rs137852405
gwascentral	rs137852405
openSNP	rs137852405
23andMe	rs137852405
SNPshot	rs137852405
SNPdbe	rs137852405
MSV3d	rs137852405
GWAS Ctlg	rs137852405

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0113
Related	also

ClinVar
Risk	Rs137852405(C;C)
Alt	Rs137852405(C;C)
Reference	Rs137852405(T;T)
Significance	Pathogenic
Disease	Hereditary factor VIII deficiency disease
Variation	info
Gene	F8
CLNDBN	Hereditary factor VIII deficiency disease
Reversed	1
HGVS	NC_000023.10:g.154197680A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010909.4,