rs137852467

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

154863113

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852467
dbSNP (classic)	rs137852467
ClinGen	rs137852467
ebi	rs137852467
HLI	rs137852467
Exac	rs137852467
Gnomad	rs137852467
Varsome	rs137852467
LitVar	rs137852467
Map	rs137852467
PheGenI	rs137852467
Biobank	rs137852467
1000 genomes	rs137852467
hgdp	rs137852467
ensembl	rs137852467
geneview	rs137852467
scholar	rs137852467
google	rs137852467
pharmgkb	rs137852467
gwascentral	rs137852467
openSNP	rs137852467
23andMe	rs137852467
SNPshot	rs137852467
SNPdbe	rs137852467
MSV3d	rs137852467
GWAS Ctlg	rs137852467

Merged from

Rs28937304

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0238
Related	also

ClinVar
Risk	Rs137852467(T;T)
Alt	Rs137852467(T;T)
Reference	Rs137852467(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.154091388G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011034.2,