rs137852469

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(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

154860588

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852469
dbSNP (classic)	rs137852469
ClinGen	rs137852469
ebi	rs137852469
HLI	rs137852469
Exac	rs137852469
Gnomad	rs137852469
Varsome	rs137852469
LitVar	rs137852469
Map	rs137852469
PheGenI	rs137852469
Biobank	rs137852469
1000 genomes	rs137852469
hgdp	rs137852469
ensembl	rs137852469
geneview	rs137852469
scholar	rs137852469
google	rs137852469
pharmgkb	rs137852469
gwascentral	rs137852469
openSNP	rs137852469
23andMe	rs137852469
SNPshot	rs137852469
SNPdbe	rs137852469
MSV3d	rs137852469
GWAS Ctlg	rs137852469

Merged from

Rs28937307

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0244
Related	also

ClinVar
Risk	Rs137852469(T;T)
Alt	Rs137852469(T;T)
Reference	Rs137852469(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.154088863C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011040.6,