rs137852457

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

154896228

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852457
dbSNP (classic)	rs137852457
ClinGen	rs137852457
ebi	rs137852457
HLI	rs137852457
Exac	rs137852457
Gnomad	rs137852457
Varsome	rs137852457
LitVar	rs137852457
Map	rs137852457
PheGenI	rs137852457
Biobank	rs137852457
1000 genomes	rs137852457
hgdp	rs137852457
ensembl	rs137852457
geneview	rs137852457
scholar	rs137852457
google	rs137852457
pharmgkb	rs137852457
gwascentral	rs137852457
openSNP	rs137852457
23andMe	rs137852457
SNPshot	rs137852457
SNPdbe	rs137852457
MSV3d	rs137852457
GWAS Ctlg	rs137852457

Merged from

Rs28937301

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0225
Related	also

ClinVar
Risk	Rs137852457(G;G)
Alt	Rs137852457(G;G)
Reference	Rs137852457(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.154124503T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011021.5,