rs137852445

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

154904975

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852445
dbSNP (classic)	rs137852445
ClinGen	rs137852445
ebi	rs137852445
HLI	rs137852445
Exac	rs137852445
Gnomad	rs137852445
Varsome	rs137852445
LitVar	rs137852445
Map	rs137852445
PheGenI	rs137852445
Biobank	rs137852445
1000 genomes	rs137852445
hgdp	rs137852445
ensembl	rs137852445
geneview	rs137852445
scholar	rs137852445
google	rs137852445
pharmgkb	rs137852445
gwascentral	rs137852445
openSNP	rs137852445
23andMe	rs137852445
SNPshot	rs137852445
SNPdbe	rs137852445
MSV3d	rs137852445
GWAS Ctlg	rs137852445

Merged from

Rs28937293

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0195
Related	also

ClinVar
Risk	Rs137852445(T;T)
Alt	Rs137852445(T;T)
Reference	Rs137852445(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.154133250G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010991.5,