rs137852372

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

154966077

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852372
dbSNP (classic)	rs137852372
ClinGen	rs137852372
ebi	rs137852372
HLI	rs137852372
Exac	rs137852372
Gnomad	rs137852372
Varsome	rs137852372
LitVar	rs137852372
Map	rs137852372
PheGenI	rs137852372
Biobank	rs137852372
1000 genomes	rs137852372
hgdp	rs137852372
ensembl	rs137852372
geneview	rs137852372
scholar	rs137852372
google	rs137852372
pharmgkb	rs137852372
gwascentral	rs137852372
openSNP	rs137852372
23andMe	rs137852372
SNPshot	rs137852372
SNPdbe	rs137852372
MSV3d	rs137852372
GWAS Ctlg	rs137852372

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0062
Related	also

ClinVar
Risk	Rs137852372(T;T)
Alt	Rs137852372(T;T)
Reference	Rs137852372(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.154194352G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010858.5,