rs137852376

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	5.5	Hemophilia A (severity varies)
(C;T)	3.5	Carrier of a Hemophilia A mutation
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

X

Position

154954041

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852376
dbSNP (classic)	rs137852376
ClinGen	rs137852376
ebi	rs137852376
HLI	rs137852376
Exac	rs137852376
Gnomad	rs137852376
Varsome	rs137852376
LitVar	rs137852376
Map	rs137852376
PheGenI	rs137852376
Biobank	rs137852376
1000 genomes	rs137852376
hgdp	rs137852376
ensembl	rs137852376
geneview	rs137852376
scholar	rs137852376
google	rs137852376
pharmgkb	rs137852376
gwascentral	rs137852376
openSNP	rs137852376
23andMe	rs137852376
SNPshot	rs137852376
SNPdbe	rs137852376
MSV3d	rs137852376
GWAS Ctlg	rs137852376

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0066
Related	also

ClinVar
Risk	Rs137852376(C;C)
Alt	Rs137852376(C;C)
Reference	Rs137852376(T;T)
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.154182316A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010862.2,