rs28937294

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(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)

Make rs28937294(A;A)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154904025

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs28937294
dbSNP (classic)	rs28937294
ClinGen	rs28937294
ebi	rs28937294
HLI	rs28937294
Exac	rs28937294
Gnomad	rs28937294
Varsome	rs28937294
LitVar	rs28937294
Map	rs28937294
PheGenI	rs28937294
Biobank	rs28937294
1000 genomes	rs28937294
hgdp	rs28937294
ensembl	rs28937294
geneview	rs28937294
scholar	rs28937294
google	rs28937294
pharmgkb	rs28937294
gwascentral	rs28937294
openSNP	rs28937294
23andMe	rs28937294
SNPshot	rs28937294
SNPdbe	rs28937294
MSV3d	rs28937294
GWAS Ctlg	rs28937294

Max Magnitude

5.5

OMIM	306700
Desc	Hemophilia A
Variant	0026
Related	also

OMIM	306700
Desc
Variant	0212
Related	also

ClinVar
Risk	rs28937294(A;A) Rs28937294(T;T)
Alt	rs28937294(A;A) Rs28937294(T;T)
Reference	Rs28937294(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.154132300C>A; NC_000023.10:g.154132300C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011008.4, RCV000010822.2,