rs137852425

Orientation

minus

Stabilized

minus

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

154953987

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852425
dbSNP (classic)	rs137852425
ClinGen	rs137852425
ebi	rs137852425
HLI	rs137852425
Exac	rs137852425
Gnomad	rs137852425
Varsome	rs137852425
LitVar	rs137852425
Map	rs137852425
PheGenI	rs137852425
Biobank	rs137852425
1000 genomes	rs137852425
hgdp	rs137852425
ensembl	rs137852425
geneview	rs137852425
scholar	rs137852425
google	rs137852425
pharmgkb	rs137852425
gwascentral	rs137852425
openSNP	rs137852425
23andMe	rs137852425
SNPshot	rs137852425
SNPdbe	rs137852425
MSV3d	rs137852425
GWAS Ctlg	rs137852425

Merged from

Rs28937284

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0150
Related	also

ClinVar
Risk	Rs137852425(T;T)
Alt	Rs137852425(T;T)
Reference	Rs137852425(G;G)
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.154182262C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010946.5,