rs137852393

Orientation

minus

Stabilized

minus

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

Make rs137852393(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154993044

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852393
dbSNP (classic)	rs137852393
ClinGen	rs137852393
ebi	rs137852393
HLI	rs137852393
Exac	rs137852393
Gnomad	rs137852393
Varsome	rs137852393
LitVar	rs137852393
Map	rs137852393
PheGenI	rs137852393
Biobank	rs137852393
1000 genomes	rs137852393
hgdp	rs137852393
ensembl	rs137852393
geneview	rs137852393
scholar	rs137852393
google	rs137852393
pharmgkb	rs137852393
gwascentral	rs137852393
openSNP	rs137852393
23andMe	rs137852393
SNPshot	rs137852393
SNPdbe	rs137852393
MSV3d	rs137852393
GWAS Ctlg	rs137852393

Merged from

Rs28935213

Max Magnitude

3.5

OMIM	306700
Desc
Variant	0093
Related	also

ClinVar
Risk	rs137852393(T;T)
Alt	rs137852393(T;T)
Reference	Rs137852393(C;C)
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.154221319G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010889.3,