rs137852420

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

154957027

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852420
dbSNP (classic)	rs137852420
ClinGen	rs137852420
ebi	rs137852420
HLI	rs137852420
Exac	rs137852420
Gnomad	rs137852420
Varsome	rs137852420
LitVar	rs137852420
Map	rs137852420
PheGenI	rs137852420
Biobank	rs137852420
1000 genomes	rs137852420
hgdp	rs137852420
ensembl	rs137852420
geneview	rs137852420
scholar	rs137852420
google	rs137852420
pharmgkb	rs137852420
gwascentral	rs137852420
openSNP	rs137852420
23andMe	rs137852420
SNPshot	rs137852420
SNPdbe	rs137852420
MSV3d	rs137852420
GWAS Ctlg	rs137852420

Merged from

Rs28937281

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0144
Related	also

ClinVar
Risk	Rs137852420(G;G)
Alt	Rs137852420(G;G)
Reference	Rs137852420(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.154185302T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010940.2,