rs137852444

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154904989

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852444
dbSNP (classic)	rs137852444
ClinGen	rs137852444
ebi	rs137852444
HLI	rs137852444
Exac	rs137852444
Gnomad	rs137852444
Varsome	rs137852444
LitVar	rs137852444
Map	rs137852444
PheGenI	rs137852444
Biobank	rs137852444
1000 genomes	rs137852444
hgdp	rs137852444
ensembl	rs137852444
geneview	rs137852444
scholar	rs137852444
google	rs137852444
pharmgkb	rs137852444
gwascentral	rs137852444
openSNP	rs137852444
23andMe	rs137852444
SNPshot	rs137852444
SNPdbe	rs137852444
MSV3d	rs137852444
GWAS Ctlg	rs137852444

Merged from

Rs28937292

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0194
Related	also

ClinVar
Risk	Rs137852444(A;A)
Alt	Rs137852444(A;A)
Reference	Rs137852444(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.154133264G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010990.5,