rs28933678

Orientation

minus

Stabilized

minus

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

154904518

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs28933678
dbSNP (classic)	rs28933678
ClinGen	rs28933678
ebi	rs28933678
HLI	rs28933678
Exac	rs28933678
Gnomad	rs28933678
Varsome	rs28933678
LitVar	rs28933678
Map	rs28933678
PheGenI	rs28933678
Biobank	rs28933678
1000 genomes	rs28933678
hgdp	rs28933678
ensembl	rs28933678
geneview	rs28933678
scholar	rs28933678
google	rs28933678
pharmgkb	rs28933678
gwascentral	rs28933678
openSNP	rs28933678
23andMe	rs28933678
SNPshot	rs28933678
SNPdbe	rs28933678
MSV3d	rs28933678
GWAS Ctlg	rs28933678

Max Magnitude

5.5

OMIM	306700
Desc	Hemophilia A
Variant	0203
Related	also

OMIM	306700
Desc
Variant	0204
Related	also

ClinVar
Risk	Rs28933678(A;A) Rs28933678(T;T)
Alt	Rs28933678(A;A) Rs28933678(T;T)
Reference	Rs28933678(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.154132793C>A; NC_000023.10:g.154132793C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011000.5, RCV000010999.4,