rs137852362

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

154928607

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852362
dbSNP (classic)	rs137852362
ClinGen	rs137852362
ebi	rs137852362
HLI	rs137852362
Exac	rs137852362
Gnomad	rs137852362
Varsome	rs137852362
LitVar	rs137852362
Map	rs137852362
PheGenI	rs137852362
Biobank	rs137852362
1000 genomes	rs137852362
hgdp	rs137852362
ensembl	rs137852362
geneview	rs137852362
scholar	rs137852362
google	rs137852362
pharmgkb	rs137852362
gwascentral	rs137852362
openSNP	rs137852362
23andMe	rs137852362
SNPshot	rs137852362
SNPdbe	rs137852362
MSV3d	rs137852362
GWAS Ctlg	rs137852362

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0032
Related	also

ClinVar
Risk	Rs137852362(G;G)
Alt	Rs137852362(G;G)
Reference	Rs137852362(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.154156882T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010829.3,