rs137852450

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

154903968

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852450
dbSNP (classic)	rs137852450
ClinGen	rs137852450
ebi	rs137852450
HLI	rs137852450
Exac	rs137852450
Gnomad	rs137852450
Varsome	rs137852450
LitVar	rs137852450
Map	rs137852450
PheGenI	rs137852450
Biobank	rs137852450
1000 genomes	rs137852450
hgdp	rs137852450
ensembl	rs137852450
geneview	rs137852450
scholar	rs137852450
google	rs137852450
pharmgkb	rs137852450
gwascentral	rs137852450
openSNP	rs137852450
23andMe	rs137852450
SNPshot	rs137852450
SNPdbe	rs137852450
MSV3d	rs137852450
GWAS Ctlg	rs137852450

Merged from

Rs28937296

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0215
Related	also

ClinVar
Risk	Rs137852450(T;T)
Alt	Rs137852450(T;T)
Reference	Rs137852450(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.154132243C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011011.5,