rs28933670

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154966483

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs28933670
dbSNP (classic)	rs28933670
ClinGen	rs28933670
ebi	rs28933670
HLI	rs28933670
Exac	rs28933670
Gnomad	rs28933670
Varsome	rs28933670
LitVar	rs28933670
Map	rs28933670
PheGenI	rs28933670
Biobank	rs28933670
1000 genomes	rs28933670
hgdp	rs28933670
ensembl	rs28933670
geneview	rs28933670
scholar	rs28933670
google	rs28933670
pharmgkb	rs28933670
gwascentral	rs28933670
openSNP	rs28933670
23andMe	rs28933670
SNPshot	rs28933670
SNPdbe	rs28933670
MSV3d	rs28933670
GWAS Ctlg	rs28933670

Max Magnitude

5.5

OMIM	306700
Desc	Hemophilia A
Variant	0125
Related	also

ClinVar
Risk	Rs28933670(G;G)
Alt	Rs28933670(G;G)
Reference	Rs28933670(T;T)
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.154194758A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010921.6,