rs137852443

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154904999

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852443
dbSNP (classic)	rs137852443
ClinGen	rs137852443
ebi	rs137852443
HLI	rs137852443
Exac	rs137852443
Gnomad	rs137852443
Varsome	rs137852443
LitVar	rs137852443
Map	rs137852443
PheGenI	rs137852443
Biobank	rs137852443
1000 genomes	rs137852443
hgdp	rs137852443
ensembl	rs137852443
geneview	rs137852443
scholar	rs137852443
google	rs137852443
pharmgkb	rs137852443
gwascentral	rs137852443
openSNP	rs137852443
23andMe	rs137852443
SNPshot	rs137852443
SNPdbe	rs137852443
MSV3d	rs137852443
GWAS Ctlg	rs137852443

Merged from

Rs28937291

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0192
Related	also

OMIM	306700
Desc
Variant	0193
Related	also

ClinVar
Risk	Rs137852443(G;G) Rs137852443(T;T)
Alt	Rs137852443(G;G) Rs137852443(T;T)
Reference	Rs137852443(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.154133274G>A; NC_000023.10:g.154133274G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010988.4, RCV000010989.4,