rs28933669

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

154966523

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs28933669
dbSNP (classic)	rs28933669
ClinGen	rs28933669
ebi	rs28933669
HLI	rs28933669
Exac	rs28933669
Gnomad	rs28933669
Varsome	rs28933669
LitVar	rs28933669
Map	rs28933669
PheGenI	rs28933669
Biobank	rs28933669
1000 genomes	rs28933669
hgdp	rs28933669
ensembl	rs28933669
geneview	rs28933669
scholar	rs28933669
google	rs28933669
pharmgkb	rs28933669
gwascentral	rs28933669
openSNP	rs28933669
23andMe	rs28933669
SNPshot	rs28933669
SNPdbe	rs28933669
MSV3d	rs28933669
GWAS Ctlg	rs28933669

Max Magnitude

5.5

OMIM	306700
Desc	Hemophilia A
Variant	0123
Related	also

ClinVar
Risk	Rs28933669(C;C)
Alt	Rs28933669(C;C)
Reference	Rs28933669(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.154194798A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010919.3,