rs28933677

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

154904839

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs28933677
dbSNP (classic)	rs28933677
ClinGen	rs28933677
ebi	rs28933677
HLI	rs28933677
Exac	rs28933677
Gnomad	rs28933677
Varsome	rs28933677
LitVar	rs28933677
Map	rs28933677
PheGenI	rs28933677
Biobank	rs28933677
1000 genomes	rs28933677
hgdp	rs28933677
ensembl	rs28933677
geneview	rs28933677
scholar	rs28933677
google	rs28933677
pharmgkb	rs28933677
gwascentral	rs28933677
openSNP	rs28933677
23andMe	rs28933677
SNPshot	rs28933677
SNPdbe	rs28933677
MSV3d	rs28933677
GWAS Ctlg	rs28933677

Max Magnitude

5.5

OMIM	306700
Desc	Hemophilia A
Variant	0201
Related	also

ClinVar
Risk	Rs28933677(T;T)
Alt	Rs28933677(T;T)
Reference	Rs28933677(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.154133114G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010997.3,