rs137852428

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

154953961

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852428
dbSNP (classic)	rs137852428
ClinGen	rs137852428
ebi	rs137852428
HLI	rs137852428
Exac	rs137852428
Gnomad	rs137852428
Varsome	rs137852428
LitVar	rs137852428
Map	rs137852428
PheGenI	rs137852428
Biobank	rs137852428
1000 genomes	rs137852428
hgdp	rs137852428
ensembl	rs137852428
geneview	rs137852428
scholar	rs137852428
google	rs137852428
pharmgkb	rs137852428
gwascentral	rs137852428
openSNP	rs137852428
23andMe	rs137852428
SNPshot	rs137852428
SNPdbe	rs137852428
MSV3d	rs137852428
GWAS Ctlg	rs137852428

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0153
Related	also

ClinVar
Risk	Rs137852428(T;T)
Alt	Rs137852428(T;T)
Reference	Rs137852428(C;C)
Significance	Pathogenic
Disease	Hereditary factor VIII deficiency disease not provided
Variation	info
Gene	F8
CLNDBN	Hereditary factor VIII deficiency disease not provided
Reversed	1
HGVS	NC_000023.10:g.154182236G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010949.6, RCV000413577.1,