rs137852369

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154904083

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852369
dbSNP (classic)	rs137852369
ClinGen	rs137852369
ebi	rs137852369
HLI	rs137852369
Exac	rs137852369
Gnomad	rs137852369
Varsome	rs137852369
LitVar	rs137852369
Map	rs137852369
PheGenI	rs137852369
Biobank	rs137852369
1000 genomes	rs137852369
hgdp	rs137852369
ensembl	rs137852369
geneview	rs137852369
scholar	rs137852369
google	rs137852369
pharmgkb	rs137852369
gwascentral	rs137852369
openSNP	rs137852369
23andMe	rs137852369
SNPshot	rs137852369
SNPdbe	rs137852369
MSV3d	rs137852369
GWAS Ctlg	rs137852369

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0057
Related	also

ClinVar
Risk	Rs137852369(G;G)
Alt	Rs137852369(G;G)
Reference	Rs137852369(A;A)
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.154132358T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010853.6,