rs137852422

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154956959

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852422
dbSNP (classic)	rs137852422
ClinGen	rs137852422
ebi	rs137852422
HLI	rs137852422
Exac	rs137852422
Gnomad	rs137852422
Varsome	rs137852422
LitVar	rs137852422
Map	rs137852422
PheGenI	rs137852422
Biobank	rs137852422
1000 genomes	rs137852422
hgdp	rs137852422
ensembl	rs137852422
geneview	rs137852422
scholar	rs137852422
google	rs137852422
pharmgkb	rs137852422
gwascentral	rs137852422
openSNP	rs137852422
23andMe	rs137852422
SNPshot	rs137852422
SNPdbe	rs137852422
MSV3d	rs137852422
GWAS Ctlg	rs137852422

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0147
Related	also

ClinVar
Risk	Rs137852422(A;A)
Alt	Rs137852422(A;A)
Reference	Rs137852422(C;C)
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.154185234G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010943.5,