rs137852462

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154863142

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852462
dbSNP (classic)	rs137852462
ClinGen	rs137852462
ebi	rs137852462
HLI	rs137852462
Exac	rs137852462
Gnomad	rs137852462
Varsome	rs137852462
LitVar	rs137852462
Map	rs137852462
PheGenI	rs137852462
Biobank	rs137852462
1000 genomes	rs137852462
hgdp	rs137852462
ensembl	rs137852462
geneview	rs137852462
scholar	rs137852462
google	rs137852462
pharmgkb	rs137852462
gwascentral	rs137852462
openSNP	rs137852462
23andMe	rs137852462
SNPshot	rs137852462
SNPdbe	rs137852462
MSV3d	rs137852462
GWAS Ctlg	rs137852462

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0232
Related	also

ClinVar
Risk	Rs137852462(A;A)
Alt	Rs137852462(A;A)
Reference	Rs137852462(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.154091417G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011029.3,