rs387906449

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154930241

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs387906449
dbSNP (classic)	rs387906449
ClinGen	rs387906449
ebi	rs387906449
HLI	rs387906449
Exac	rs387906449
Gnomad	rs387906449
Varsome	rs387906449
LitVar	rs387906449
Map	rs387906449
PheGenI	rs387906449
Biobank	rs387906449
1000 genomes	rs387906449
hgdp	rs387906449
ensembl	rs387906449
geneview	rs387906449
scholar	rs387906449
google	rs387906449
pharmgkb	rs387906449
gwascentral	rs387906449
openSNP	rs387906449
23andMe	rs387906449
SNPshot	rs387906449
SNPdbe	rs387906449
MSV3d	rs387906449
GWAS Ctlg	rs387906449

Max Magnitude

5.5

ClinVar
Risk	Rs387906449(-;-)
Alt	Rs387906449(-;-)
Reference	Rs387906449(AA;AA)
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.154158516_154158517delTT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010965.2,