rs28933671

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154966471

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs28933671
dbSNP (classic)	rs28933671
ClinGen	rs28933671
ebi	rs28933671
HLI	rs28933671
Exac	rs28933671
Gnomad	rs28933671
Varsome	rs28933671
LitVar	rs28933671
Map	rs28933671
PheGenI	rs28933671
Biobank	rs28933671
1000 genomes	rs28933671
hgdp	rs28933671
ensembl	rs28933671
geneview	rs28933671
scholar	rs28933671
google	rs28933671
pharmgkb	rs28933671
gwascentral	rs28933671
openSNP	rs28933671
23andMe	rs28933671
SNPshot	rs28933671
SNPdbe	rs28933671
MSV3d	rs28933671
GWAS Ctlg	rs28933671

Max Magnitude

5.5

OMIM	306700
Desc	Hemophilia A
Variant	0126
Related	also

ClinVar
Risk	Rs28933671(G;G)
Alt	Rs28933671(G;G)
Reference	Rs28933671(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.154194746T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010922.2,