rs387906443

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

154965996

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs387906443
dbSNP (classic)	rs387906443
ClinGen	rs387906443
ebi	rs387906443
HLI	rs387906443
Exac	rs387906443
Gnomad	rs387906443
Varsome	rs387906443
LitVar	rs387906443
Map	rs387906443
PheGenI	rs387906443
Biobank	rs387906443
1000 genomes	rs387906443
hgdp	rs387906443
ensembl	rs387906443
geneview	rs387906443
scholar	rs387906443
google	rs387906443
pharmgkb	rs387906443
gwascentral	rs387906443
openSNP	rs387906443
23andMe	rs387906443
SNPshot	rs387906443
SNPdbe	rs387906443
MSV3d	rs387906443
GWAS Ctlg	rs387906443

Max Magnitude

5.5

ClinVar
Risk	Rs387906443(C;C)
Alt	Rs387906443(C;C)
Reference	Rs387906443(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.154194271A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010927.4,