rs28937287

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154906470

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs28937287
dbSNP (classic)	rs28937287
ClinGen	rs28937287
ebi	rs28937287
HLI	rs28937287
Exac	rs28937287
Gnomad	rs28937287
Varsome	rs28937287
LitVar	rs28937287
Map	rs28937287
PheGenI	rs28937287
Biobank	rs28937287
1000 genomes	rs28937287
hgdp	rs28937287
ensembl	rs28937287
geneview	rs28937287
scholar	rs28937287
google	rs28937287
pharmgkb	rs28937287
gwascentral	rs28937287
openSNP	rs28937287
23andMe	rs28937287
SNPshot	rs28937287
SNPdbe	rs28937287
MSV3d	rs28937287
GWAS Ctlg	rs28937287

Max Magnitude

5.5

OMIM	306700
Desc	Hemophilia A
Variant	0188
Related	also

ClinVar
Risk	Rs28937287(G;G)
Alt	Rs28937287(G;G)
Reference	Rs28937287(T;T)
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.154134745A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010984.4,