rs137852470

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154860538

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852470
dbSNP (classic)	rs137852470
ClinGen	rs137852470
ebi	rs137852470
HLI	rs137852470
Exac	rs137852470
Gnomad	rs137852470
Varsome	rs137852470
LitVar	rs137852470
Map	rs137852470
PheGenI	rs137852470
Biobank	rs137852470
1000 genomes	rs137852470
hgdp	rs137852470
ensembl	rs137852470
geneview	rs137852470
scholar	rs137852470
google	rs137852470
pharmgkb	rs137852470
gwascentral	rs137852470
openSNP	rs137852470
23andMe	rs137852470
SNPshot	rs137852470
SNPdbe	rs137852470
MSV3d	rs137852470
GWAS Ctlg	rs137852470

Merged from

Rs28937308

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0245
Related	also

ClinVar
Risk	Rs137852470(G;G)
Alt	Rs137852470(G;G)
Reference	Rs137852470(A;A)
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.154088813T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011041.3,