rs137852366

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154896102

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852366
dbSNP (classic)	rs137852366
ClinGen	rs137852366
ebi	rs137852366
HLI	rs137852366
Exac	rs137852366
Gnomad	rs137852366
Varsome	rs137852366
LitVar	rs137852366
Map	rs137852366
PheGenI	rs137852366
Biobank	rs137852366
1000 genomes	rs137852366
hgdp	rs137852366
ensembl	rs137852366
geneview	rs137852366
scholar	rs137852366
google	rs137852366
pharmgkb	rs137852366
gwascentral	rs137852366
openSNP	rs137852366
23andMe	rs137852366
SNPshot	rs137852366
SNPdbe	rs137852366
MSV3d	rs137852366
GWAS Ctlg	rs137852366

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0044
Related	also

ClinVar
Risk	rs137852366(A;A) Rs137852366(C;C)
Alt	rs137852366(A;A) Rs137852366(C;C)
Reference	Rs137852366(G;G)
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.154124377C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010841.5,