rs137852413

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154961131

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852413
dbSNP (classic)	rs137852413
ClinGen	rs137852413
ebi	rs137852413
HLI	rs137852413
Exac	rs137852413
Gnomad	rs137852413
Varsome	rs137852413
LitVar	rs137852413
Map	rs137852413
PheGenI	rs137852413
Biobank	rs137852413
1000 genomes	rs137852413
hgdp	rs137852413
ensembl	rs137852413
geneview	rs137852413
scholar	rs137852413
google	rs137852413
pharmgkb	rs137852413
gwascentral	rs137852413
openSNP	rs137852413
23andMe	rs137852413
SNPshot	rs137852413
SNPdbe	rs137852413
MSV3d	rs137852413
GWAS Ctlg	rs137852413

Merged from

Rs28936968

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0133
Related	also

ClinVar
Risk	Rs137852413(C;C)
Alt	Rs137852413(C;C)
Reference	Rs137852413(T;T)
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.154189406A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010929.4,