rs137852432

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;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

154947846

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852432
dbSNP (classic)	rs137852432
ClinGen	rs137852432
ebi	rs137852432
HLI	rs137852432
Exac	rs137852432
Gnomad	rs137852432
Varsome	rs137852432
LitVar	rs137852432
Map	rs137852432
PheGenI	rs137852432
Biobank	rs137852432
1000 genomes	rs137852432
hgdp	rs137852432
ensembl	rs137852432
geneview	rs137852432
scholar	rs137852432
google	rs137852432
pharmgkb	rs137852432
gwascentral	rs137852432
openSNP	rs137852432
23andMe	rs137852432
SNPshot	rs137852432
SNPdbe	rs137852432
MSV3d	rs137852432
GWAS Ctlg	rs137852432

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0158
Related	also

ClinVar
Risk	Rs137852432(G;G)
Alt	Rs137852432(G;G)
Reference	Rs137852432(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.154176121G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010954.6,