rs28933679

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	2.5
(G;G)	3

Reference

GRCh38 38.1/141

Chromosome

X

Position

154904511

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs28933679
dbSNP (classic)	rs28933679
ClinGen	rs28933679
ebi	rs28933679
HLI	rs28933679
Exac	rs28933679
Gnomad	rs28933679
Varsome	rs28933679
LitVar	rs28933679
Map	rs28933679
PheGenI	rs28933679
Biobank	rs28933679
1000 genomes	rs28933679
hgdp	rs28933679
ensembl	rs28933679
geneview	rs28933679
scholar	rs28933679
google	rs28933679
pharmgkb	rs28933679
gwascentral	rs28933679
openSNP	rs28933679
23andMe	rs28933679
SNPshot	rs28933679
SNPdbe	rs28933679
MSV3d	rs28933679
GWAS Ctlg	rs28933679

Max Magnitude

3

OMIM	306700
Desc	Hemophilia A
Variant	0205
Related	also

ClinVar
Risk	Rs28933679(G;G)
Alt	Rs28933679(G;G)
Reference	Rs28933679(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.154132786T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011001.2,