rs28933672

Orientation

minus

Stabilized

minus

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

154966120

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs28933672
dbSNP (classic)	rs28933672
ClinGen	rs28933672
ebi	rs28933672
HLI	rs28933672
Exac	rs28933672
Gnomad	rs28933672
Varsome	rs28933672
LitVar	rs28933672
Map	rs28933672
PheGenI	rs28933672
Biobank	rs28933672
1000 genomes	rs28933672
hgdp	rs28933672
ensembl	rs28933672
geneview	rs28933672
scholar	rs28933672
google	rs28933672
pharmgkb	rs28933672
gwascentral	rs28933672
openSNP	rs28933672
23andMe	rs28933672
SNPshot	rs28933672
SNPdbe	rs28933672
MSV3d	rs28933672
GWAS Ctlg	rs28933672

Max Magnitude

5.5

OMIM	306700
Desc	Hemophilia A
Variant	0127
Related	also

ClinVar
Risk	Rs28933672(T;T)
Alt	Rs28933672(T;T)
Reference	Rs28933672(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.154194395C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010923.5,