rs28935203

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)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154928694

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs28935203
dbSNP (classic)	rs28935203
ClinGen	rs28935203
ebi	rs28935203
HLI	rs28935203
Exac	rs28935203
Gnomad	rs28935203
Varsome	rs28935203
LitVar	rs28935203
Map	rs28935203
PheGenI	rs28935203
Biobank	rs28935203
1000 genomes	rs28935203
hgdp	rs28935203
ensembl	rs28935203
geneview	rs28935203
scholar	rs28935203
google	rs28935203
pharmgkb	rs28935203
gwascentral	rs28935203
openSNP	rs28935203
23andMe	rs28935203
SNPshot	rs28935203
SNPdbe	rs28935203
MSV3d	rs28935203
GWAS Ctlg	rs28935203

Max Magnitude

5.5

OMIM	306700
Desc	Hemophilia A
Variant	0031
Related	also

ClinVar
Risk	Rs28935203(T;T)
Alt	Rs28935203(T;T)
Reference	Rs28935203(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.154156969T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010828.5,