rs137852451

Orientation

minus

Stabilized

minus

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

154903966

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852451
dbSNP (classic)	rs137852451
ClinGen	rs137852451
ebi	rs137852451
HLI	rs137852451
Exac	rs137852451
Gnomad	rs137852451
Varsome	rs137852451
LitVar	rs137852451
Map	rs137852451
PheGenI	rs137852451
Biobank	rs137852451
1000 genomes	rs137852451
hgdp	rs137852451
ensembl	rs137852451
geneview	rs137852451
scholar	rs137852451
google	rs137852451
pharmgkb	rs137852451
gwascentral	rs137852451
openSNP	rs137852451
23andMe	rs137852451
SNPshot	rs137852451
SNPdbe	rs137852451
MSV3d	rs137852451
GWAS Ctlg	rs137852451

Merged from

Rs28937297

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0216
Related	also

ClinVar
Risk	Rs137852451(T;T)
Alt	Rs137852451(T;T)
Reference	Rs137852451(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.154132241G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011012.5,