rs137852379

Orientation

minus

Stabilized

minus

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

Make rs137852379(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

155022432

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852379
dbSNP (classic)	rs137852379
ClinGen	rs137852379
ebi	rs137852379
HLI	rs137852379
Exac	rs137852379
Gnomad	rs137852379
Varsome	rs137852379
LitVar	rs137852379
Map	rs137852379
PheGenI	rs137852379
Biobank	rs137852379
1000 genomes	rs137852379
hgdp	rs137852379
ensembl	rs137852379
geneview	rs137852379
scholar	rs137852379
google	rs137852379
pharmgkb	rs137852379
gwascentral	rs137852379
openSNP	rs137852379
23andMe	rs137852379
SNPshot	rs137852379
SNPdbe	rs137852379
MSV3d	rs137852379
GWAS Ctlg	rs137852379

Max Magnitude

3.5

OMIM	306700
Desc
Variant	0073
Related	also

ClinVar
Risk	rs137852379(A;A) rs137852379(T;T)
Alt	rs137852379(A;A) rs137852379(T;T)
Reference	Rs137852379(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.154250707C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010869.5,