rs137852464

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

154863125

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852464
dbSNP (classic)	rs137852464
ClinGen	rs137852464
ebi	rs137852464
HLI	rs137852464
Exac	rs137852464
Gnomad	rs137852464
Varsome	rs137852464
LitVar	rs137852464
Map	rs137852464
PheGenI	rs137852464
Biobank	rs137852464
1000 genomes	rs137852464
hgdp	rs137852464
ensembl	rs137852464
geneview	rs137852464
scholar	rs137852464
google	rs137852464
pharmgkb	rs137852464
gwascentral	rs137852464
openSNP	rs137852464
23andMe	rs137852464
SNPshot	rs137852464
SNPdbe	rs137852464
MSV3d	rs137852464
GWAS Ctlg	rs137852464

Merged from

Rs28936970

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0234
Related	also

ClinVar
Risk	Rs137852464(T;T)
Alt	Rs137852464(T;T)
Reference	Rs137852464(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.154091400G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011031.6,