rs137852363

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3.5	Carrier of a Hemophilia A mutation
(T;T)	5.5	Hemophilia A (severity varies)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154904026

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852363
dbSNP (classic)	rs137852363
ClinGen	rs137852363
ebi	rs137852363
HLI	rs137852363
Exac	rs137852363
Gnomad	rs137852363
Varsome	rs137852363
LitVar	rs137852363
Map	rs137852363
PheGenI	rs137852363
Biobank	rs137852363
1000 genomes	rs137852363
hgdp	rs137852363
ensembl	rs137852363
geneview	rs137852363
scholar	rs137852363
google	rs137852363
pharmgkb	rs137852363
gwascentral	rs137852363
openSNP	rs137852363
23andMe	rs137852363
SNPshot	rs137852363
SNPdbe	rs137852363
MSV3d	rs137852363
GWAS Ctlg	rs137852363

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0034
Related	also

ClinVar
Risk	rs137852363(A;A) Rs137852363(T;T)
Alt	rs137852363(A;A) Rs137852363(T;T)
Reference	Rs137852363(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.154132301G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010831.6,