rs137852389

Orientation

minus

Stabilized

minus

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

Make rs137852389(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154993139

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852389
dbSNP (classic)	rs137852389
ClinGen	rs137852389
ebi	rs137852389
HLI	rs137852389
Exac	rs137852389
Gnomad	rs137852389
Varsome	rs137852389
LitVar	rs137852389
Map	rs137852389
PheGenI	rs137852389
Biobank	rs137852389
1000 genomes	rs137852389
hgdp	rs137852389
ensembl	rs137852389
geneview	rs137852389
scholar	rs137852389
google	rs137852389
pharmgkb	rs137852389
gwascentral	rs137852389
openSNP	rs137852389
23andMe	rs137852389
SNPshot	rs137852389
SNPdbe	rs137852389
MSV3d	rs137852389
GWAS Ctlg	rs137852389

Max Magnitude

3.5

OMIM	306700
Desc
Variant	0089
Related	also

ClinVar
Risk	rs137852389(G;G)
Alt	rs137852389(G;G)
Reference	Rs137852389(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.154221414T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010885.6,