rs137852442

Orientation

minus

Stabilized

minus

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

Make rs137852442(A;A)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154904998

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852442
dbSNP (classic)	rs137852442
ClinGen	rs137852442
ebi	rs137852442
HLI	rs137852442
Exac	rs137852442
Gnomad	rs137852442
Varsome	rs137852442
LitVar	rs137852442
Map	rs137852442
PheGenI	rs137852442
Biobank	rs137852442
1000 genomes	rs137852442
hgdp	rs137852442
ensembl	rs137852442
geneview	rs137852442
scholar	rs137852442
google	rs137852442
pharmgkb	rs137852442
gwascentral	rs137852442
openSNP	rs137852442
23andMe	rs137852442
SNPshot	rs137852442
SNPdbe	rs137852442
MSV3d	rs137852442
GWAS Ctlg	rs137852442

Merged from

Rs28937290

Max Magnitude

3.5

OMIM	306700
Desc
Variant	0191
Related	also

ClinVar
Risk	rs137852442(A;A)
Alt	rs137852442(A;A)
Reference	Rs137852442(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.154133273C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010987.5,