rs137852418

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154957060

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852418
dbSNP (classic)	rs137852418
ClinGen	rs137852418
ebi	rs137852418
HLI	rs137852418
Exac	rs137852418
Gnomad	rs137852418
Varsome	rs137852418
LitVar	rs137852418
Map	rs137852418
PheGenI	rs137852418
Biobank	rs137852418
1000 genomes	rs137852418
hgdp	rs137852418
ensembl	rs137852418
geneview	rs137852418
scholar	rs137852418
google	rs137852418
pharmgkb	rs137852418
gwascentral	rs137852418
openSNP	rs137852418
23andMe	rs137852418
SNPshot	rs137852418
SNPdbe	rs137852418
MSV3d	rs137852418
GWAS Ctlg	rs137852418

Merged from

Rs28937279

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0142
Related	also

ClinVar
Risk	Rs137852418(A;A)
Alt	Rs137852418(A;A)
Reference	Rs137852418(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.154185335C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010938.3,