rs387906444

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154965995

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs387906444
dbSNP (classic)	rs387906444
ClinGen	rs387906444
ebi	rs387906444
HLI	rs387906444
Exac	rs387906444
Gnomad	rs387906444
Varsome	rs387906444
LitVar	rs387906444
Map	rs387906444
PheGenI	rs387906444
Biobank	rs387906444
1000 genomes	rs387906444
hgdp	rs387906444
ensembl	rs387906444
geneview	rs387906444
scholar	rs387906444
google	rs387906444
pharmgkb	rs387906444
gwascentral	rs387906444
openSNP	rs387906444
23andMe	rs387906444
SNPshot	rs387906444
SNPdbe	rs387906444
MSV3d	rs387906444
GWAS Ctlg	rs387906444

Max Magnitude

5.5

ClinVar
Risk	Rs387906444(G;G)
Alt	Rs387906444(G;G)
Reference	Rs387906444(A;A)
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.154194270T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010928.2,