rs137852456

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154899876

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852456
dbSNP (classic)	rs137852456
ClinGen	rs137852456
ebi	rs137852456
HLI	rs137852456
Exac	rs137852456
Gnomad	rs137852456
Varsome	rs137852456
LitVar	rs137852456
Map	rs137852456
PheGenI	rs137852456
Biobank	rs137852456
1000 genomes	rs137852456
hgdp	rs137852456
ensembl	rs137852456
geneview	rs137852456
scholar	rs137852456
google	rs137852456
pharmgkb	rs137852456
gwascentral	rs137852456
openSNP	rs137852456
23andMe	rs137852456
SNPshot	rs137852456
SNPdbe	rs137852456
MSV3d	rs137852456
GWAS Ctlg	rs137852456

Merged from

Rs28937300

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0224
Related	also

ClinVar
Risk	Rs137852456(T;T)
Alt	Rs137852456(T;T)
Reference	Rs137852456(C;C)
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.154128151G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011020.3,