rs28933680

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154904493

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs28933680
dbSNP (classic)	rs28933680
ClinGen	rs28933680
ebi	rs28933680
HLI	rs28933680
Exac	rs28933680
Gnomad	rs28933680
Varsome	rs28933680
LitVar	rs28933680
Map	rs28933680
PheGenI	rs28933680
Biobank	rs28933680
1000 genomes	rs28933680
hgdp	rs28933680
ensembl	rs28933680
geneview	rs28933680
scholar	rs28933680
google	rs28933680
pharmgkb	rs28933680
gwascentral	rs28933680
openSNP	rs28933680
23andMe	rs28933680
SNPshot	rs28933680
SNPdbe	rs28933680
MSV3d	rs28933680
GWAS Ctlg	rs28933680

Max Magnitude

5.5

OMIM	306700
Desc	Hemophilia A
Variant	0206
Related	also

ClinVar
Risk	Rs28933680(G;G)
Alt	Rs28933680(G;G)
Reference	Rs28933680(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.154132768G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011002.2,