rs28933676

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154904864

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs28933676
dbSNP (classic)	rs28933676
ClinGen	rs28933676
ebi	rs28933676
HLI	rs28933676
Exac	rs28933676
Gnomad	rs28933676
Varsome	rs28933676
LitVar	rs28933676
Map	rs28933676
PheGenI	rs28933676
Biobank	rs28933676
1000 genomes	rs28933676
hgdp	rs28933676
ensembl	rs28933676
geneview	rs28933676
scholar	rs28933676
google	rs28933676
pharmgkb	rs28933676
gwascentral	rs28933676
openSNP	rs28933676
23andMe	rs28933676
SNPshot	rs28933676
SNPdbe	rs28933676
MSV3d	rs28933676
GWAS Ctlg	rs28933676

Max Magnitude

5.5

OMIM	306700
Desc	Hemophilia A
Variant	0199
Related	also

ClinVar
Risk	Rs28933676(C;C)
Alt	Rs28933676(C;C)
Reference	Rs28933676(A;A)
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.154133139T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010995.6,