rs2228152

Orientation

minus

Stabilized

minus

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

Make rs2228152(A;G)

Make rs2228152(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154931407

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs2228152
dbSNP (classic)	rs2228152
ClinGen	rs2228152
ebi	rs2228152
HLI	rs2228152
Exac	rs2228152
Gnomad	rs2228152
Varsome	rs2228152
LitVar	rs2228152
Map	rs2228152
PheGenI	rs2228152
Biobank	rs2228152
1000 genomes	rs2228152
hgdp	rs2228152
ensembl	rs2228152
geneview	rs2228152
scholar	rs2228152
google	rs2228152
pharmgkb	rs2228152
gwascentral	rs2228152
openSNP	rs2228152
23andMe	rs2228152
SNPshot	rs2228152
SNPdbe	rs2228152
MSV3d	rs2228152
GWAS Ctlg	rs2228152

GMAF

0.002418

Max Magnitude

5.5

?	(A;A) (A;G) (G;G)	28

ClinVar
Risk	rs2228152(G;G) Rs2228152(T;T)
Alt	rs2228152(G;G) Rs2228152(T;T)
Reference	Rs2228152(A;A)
Significance	Pathogenic
Disease	Hereditary factor VIII deficiency disease Hemophilia A
Variation	info
Gene	F8
CLNDBN	Hereditary factor VIII deficiency disease Hemophilia A, FVIII Deficiency
Reversed	1
HGVS	NC_000023.10:g.154159682T>A; NC_000023.10:g.154159682T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010961.3, RCV000359995.1,

[PMID 17209060] A sequence variation scan of the coagulation factor VIII (FVIII) structural gene and associations with plasma FVIII activity levels.