rs28933682

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;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

154904082

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs28933682
dbSNP (classic)	rs28933682
ClinGen	rs28933682
ebi	rs28933682
HLI	rs28933682
Exac	rs28933682
Gnomad	rs28933682
Varsome	rs28933682
LitVar	rs28933682
Map	rs28933682
PheGenI	rs28933682
Biobank	rs28933682
1000 genomes	rs28933682
hgdp	rs28933682
ensembl	rs28933682
geneview	rs28933682
scholar	rs28933682
google	rs28933682
pharmgkb	rs28933682
gwascentral	rs28933682
openSNP	rs28933682
23andMe	rs28933682
SNPshot	rs28933682
SNPdbe	rs28933682
MSV3d	rs28933682
GWAS Ctlg	rs28933682

Max Magnitude

5.5

OMIM	306700
Desc	Hemophilia A
Variant	0211
Related	also

ClinVar
Risk	Rs28933682(G;G)
Alt	Rs28933682(G;G)
Reference	Rs28933682(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.154132357T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011007.4,