rs137852475

Orientation

minus

Stabilized

minus

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

Make rs137852475(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154992945

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852475
dbSNP (classic)	rs137852475
ClinGen	rs137852475
ebi	rs137852475
HLI	rs137852475
Exac	rs137852475
Gnomad	rs137852475
Varsome	rs137852475
LitVar	rs137852475
Map	rs137852475
PheGenI	rs137852475
Biobank	rs137852475
1000 genomes	rs137852475
hgdp	rs137852475
ensembl	rs137852475
geneview	rs137852475
scholar	rs137852475
google	rs137852475
pharmgkb	rs137852475
gwascentral	rs137852475
openSNP	rs137852475
23andMe	rs137852475
SNPshot	rs137852475
SNPdbe	rs137852475
MSV3d	rs137852475
GWAS Ctlg	rs137852475

Max Magnitude

3.5

OMIM	306700
Desc
Variant	0268
Related	also

ClinVar
Risk	rs137852475(G;G)
Alt	rs137852475(G;G)
Reference	Rs137852475(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.154221220A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011064.3,