rs137852374

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

154837698

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852374
dbSNP (classic)	rs137852374
ClinGen	rs137852374
ebi	rs137852374
HLI	rs137852374
Exac	rs137852374
Gnomad	rs137852374
Varsome	rs137852374
LitVar	rs137852374
Map	rs137852374
PheGenI	rs137852374
Biobank	rs137852374
1000 genomes	rs137852374
hgdp	rs137852374
ensembl	rs137852374
geneview	rs137852374
scholar	rs137852374
google	rs137852374
pharmgkb	rs137852374
gwascentral	rs137852374
openSNP	rs137852374
23andMe	rs137852374
SNPshot	rs137852374
SNPdbe	rs137852374
MSV3d	rs137852374
GWAS Ctlg	rs137852374

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0064
Related	also

ClinVar
Risk	Rs137852374(T;T)
Alt	Rs137852374(T;T)
Reference	Rs137852374(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.154065973G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010860.2,