rs137852354

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

154837677

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852354
dbSNP (classic)	rs137852354
ClinGen	rs137852354
ebi	rs137852354
HLI	rs137852354
Exac	rs137852354
Gnomad	rs137852354
Varsome	rs137852354
LitVar	rs137852354
Map	rs137852354
PheGenI	rs137852354
Biobank	rs137852354
1000 genomes	rs137852354
hgdp	rs137852354
ensembl	rs137852354
geneview	rs137852354
scholar	rs137852354
google	rs137852354
pharmgkb	rs137852354
gwascentral	rs137852354
openSNP	rs137852354
23andMe	rs137852354
SNPshot	rs137852354
SNPdbe	rs137852354
MSV3d	rs137852354
GWAS Ctlg	rs137852354

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs137852354(T;T)
Alt	Rs137852354(T;T)
Reference	Rs137852354(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.154065952G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010797.2,