rs28937272

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

154966082

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs28937272
dbSNP (classic)	rs28937272
ClinGen	rs28937272
ebi	rs28937272
HLI	rs28937272
Exac	rs28937272
Gnomad	rs28937272
Varsome	rs28937272
LitVar	rs28937272
Map	rs28937272
PheGenI	rs28937272
Biobank	rs28937272
1000 genomes	rs28937272
hgdp	rs28937272
ensembl	rs28937272
geneview	rs28937272
scholar	rs28937272
google	rs28937272
pharmgkb	rs28937272
gwascentral	rs28937272
openSNP	rs28937272
23andMe	rs28937272
SNPshot	rs28937272
SNPdbe	rs28937272
MSV3d	rs28937272
GWAS Ctlg	rs28937272

Max Magnitude

5.5

OMIM	306700
Desc	Hemophilia A
Variant	0129
Related	also

ClinVar
Risk	Rs28937272(G;G)
Alt	Rs28937272(G;G)
Reference	Rs28937272(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.154194357T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010925.2,