rs28933675

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154904867

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs28933675
dbSNP (classic)	rs28933675
ClinGen	rs28933675
ebi	rs28933675
HLI	rs28933675
Exac	rs28933675
Gnomad	rs28933675
Varsome	rs28933675
LitVar	rs28933675
Map	rs28933675
PheGenI	rs28933675
Biobank	rs28933675
1000 genomes	rs28933675
hgdp	rs28933675
ensembl	rs28933675
geneview	rs28933675
scholar	rs28933675
google	rs28933675
pharmgkb	rs28933675
gwascentral	rs28933675
openSNP	rs28933675
23andMe	rs28933675
SNPshot	rs28933675
SNPdbe	rs28933675
MSV3d	rs28933675
GWAS Ctlg	rs28933675

Max Magnitude

5.5

OMIM	306700
Desc	Hemophilia A
Variant	0198
Related	also

ClinVar
Risk	Rs28933675(T;T)
Alt	Rs28933675(T;T)
Reference	Rs28933675(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.154133142G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010994.5,