rs28937282

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

154956979

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs28937282
dbSNP (classic)	rs28937282
ClinGen	rs28937282
ebi	rs28937282
HLI	rs28937282
Exac	rs28937282
Gnomad	rs28937282
Varsome	rs28937282
LitVar	rs28937282
Map	rs28937282
PheGenI	rs28937282
Biobank	rs28937282
1000 genomes	rs28937282
hgdp	rs28937282
ensembl	rs28937282
geneview	rs28937282
scholar	rs28937282
google	rs28937282
pharmgkb	rs28937282
gwascentral	rs28937282
openSNP	rs28937282
23andMe	rs28937282
SNPshot	rs28937282
SNPdbe	rs28937282
MSV3d	rs28937282
GWAS Ctlg	rs28937282

Max Magnitude

5.5

OMIM	306700
Desc	Hemophilia A
Variant	0146
Related	also

ClinVar
Risk	Rs28937282(T;T)
Alt	Rs28937282(T;T)
Reference	Rs28937282(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.154185254G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010942.2,