rs387906459

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154904391

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs387906459
dbSNP (classic)	rs387906459
ClinGen	rs387906459
ebi	rs387906459
HLI	rs387906459
Exac	rs387906459
Gnomad	rs387906459
Varsome	rs387906459
LitVar	rs387906459
Map	rs387906459
PheGenI	rs387906459
Biobank	rs387906459
1000 genomes	rs387906459
hgdp	rs387906459
ensembl	rs387906459
geneview	rs387906459
scholar	rs387906459
google	rs387906459
pharmgkb	rs387906459
gwascentral	rs387906459
openSNP	rs387906459
23andMe	rs387906459
SNPshot	rs387906459
SNPdbe	rs387906459
MSV3d	rs387906459
GWAS Ctlg	rs387906459

Max Magnitude

5.5

ClinVar
Risk	Rs387906459(A;A)
Alt	Rs387906459(A;A)
Reference	Rs387906459(-;-)
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.154132667dupT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011006.5,