rs137852468

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154861810

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852468
dbSNP (classic)	rs137852468
ClinGen	rs137852468
ebi	rs137852468
HLI	rs137852468
Exac	rs137852468
Gnomad	rs137852468
Varsome	rs137852468
LitVar	rs137852468
Map	rs137852468
PheGenI	rs137852468
Biobank	rs137852468
1000 genomes	rs137852468
hgdp	rs137852468
ensembl	rs137852468
geneview	rs137852468
scholar	rs137852468
google	rs137852468
pharmgkb	rs137852468
gwascentral	rs137852468
openSNP	rs137852468
23andMe	rs137852468
SNPshot	rs137852468
SNPdbe	rs137852468
MSV3d	rs137852468
GWAS Ctlg	rs137852468

Merged from

Rs28937305

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0239
Related	also

ClinVar
Risk	Rs137852468(C;C)
Alt	Rs137852468(C;C)
Reference	Rs137852468(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.154090085C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011035.3,