rs137852466

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154863112

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852466
dbSNP (classic)	rs137852466
ClinGen	rs137852466
ebi	rs137852466
HLI	rs137852466
Exac	rs137852466
Gnomad	rs137852466
Varsome	rs137852466
LitVar	rs137852466
Map	rs137852466
PheGenI	rs137852466
Biobank	rs137852466
1000 genomes	rs137852466
hgdp	rs137852466
ensembl	rs137852466
geneview	rs137852466
scholar	rs137852466
google	rs137852466
pharmgkb	rs137852466
gwascentral	rs137852466
openSNP	rs137852466
23andMe	rs137852466
SNPshot	rs137852466
SNPdbe	rs137852466
MSV3d	rs137852466
GWAS Ctlg	rs137852466

Merged from

Rs28937303

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0237
Related	also

ClinVar
Risk	Rs137852466(A;A)
Alt	Rs137852466(A;A)
Reference	Rs137852466(G;G)
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.154091387C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011033.4,