rs137852395

Orientation

minus

Stabilized

minus

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

Make rs137852395(C;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154992983

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852395
dbSNP (classic)	rs137852395
ClinGen	rs137852395
ebi	rs137852395
HLI	rs137852395
Exac	rs137852395
Gnomad	rs137852395
Varsome	rs137852395
LitVar	rs137852395
Map	rs137852395
PheGenI	rs137852395
Biobank	rs137852395
1000 genomes	rs137852395
hgdp	rs137852395
ensembl	rs137852395
geneview	rs137852395
scholar	rs137852395
google	rs137852395
pharmgkb	rs137852395
gwascentral	rs137852395
openSNP	rs137852395
23andMe	rs137852395
SNPshot	rs137852395
SNPdbe	rs137852395
MSV3d	rs137852395
GWAS Ctlg	rs137852395

Max Magnitude

3.5

OMIM	306700
Desc
Variant	0095
Related	also

ClinVar
Risk	rs137852395(C;C)
Alt	rs137852395(C;C)
Reference	Rs137852395(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.154221258T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010891.2,