rs28933681

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154904401

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs28933681
dbSNP (classic)	rs28933681
ClinGen	rs28933681
ebi	rs28933681
HLI	rs28933681
Exac	rs28933681
Gnomad	rs28933681
Varsome	rs28933681
LitVar	rs28933681
Map	rs28933681
PheGenI	rs28933681
Biobank	rs28933681
1000 genomes	rs28933681
hgdp	rs28933681
ensembl	rs28933681
geneview	rs28933681
scholar	rs28933681
google	rs28933681
pharmgkb	rs28933681
gwascentral	rs28933681
openSNP	rs28933681
23andMe	rs28933681
SNPshot	rs28933681
SNPdbe	rs28933681
MSV3d	rs28933681
GWAS Ctlg	rs28933681

Max Magnitude

5.5

OMIM	306700
Desc	Hemophilia A
Variant	0209
Related	also

ClinVar
Risk	Rs28933681(A;A)
Alt	Rs28933681(A;A)
Reference	Rs28933681(G;G)
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.154132676C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011005.4,