rs137852375

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

154906421

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852375
dbSNP (classic)	rs137852375
ClinGen	rs137852375
ebi	rs137852375
HLI	rs137852375
Exac	rs137852375
Gnomad	rs137852375
Varsome	rs137852375
LitVar	rs137852375
Map	rs137852375
PheGenI	rs137852375
Biobank	rs137852375
1000 genomes	rs137852375
hgdp	rs137852375
ensembl	rs137852375
geneview	rs137852375
scholar	rs137852375
google	rs137852375
pharmgkb	rs137852375
gwascentral	rs137852375
openSNP	rs137852375
23andMe	rs137852375
SNPshot	rs137852375
SNPdbe	rs137852375
MSV3d	rs137852375
GWAS Ctlg	rs137852375

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0065
Related	also

ClinVar
Risk	Rs137852375(C;C)
Alt	Rs137852375(C;C)
Reference	Rs137852375(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.154134696A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010861.5,