rs137852365

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154863103

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852365
dbSNP (classic)	rs137852365
ClinGen	rs137852365
ebi	rs137852365
HLI	rs137852365
Exac	rs137852365
Gnomad	rs137852365
Varsome	rs137852365
LitVar	rs137852365
Map	rs137852365
PheGenI	rs137852365
Biobank	rs137852365
1000 genomes	rs137852365
hgdp	rs137852365
ensembl	rs137852365
geneview	rs137852365
scholar	rs137852365
google	rs137852365
pharmgkb	rs137852365
gwascentral	rs137852365
openSNP	rs137852365
23andMe	rs137852365
SNPshot	rs137852365
SNPdbe	rs137852365
MSV3d	rs137852365
GWAS Ctlg	rs137852365

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0043
Related	also

ClinVar
Risk	Rs137852365(C;C)
Alt	Rs137852365(C;C)
Reference	Rs137852365(T;T)
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.154091378A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010840.3,