rs111033613

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;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

154928668

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs111033613
dbSNP (classic)	rs111033613
ClinGen	rs111033613
ebi	rs111033613
HLI	rs111033613
Exac	rs111033613
Gnomad	rs111033613
Varsome	rs111033613
LitVar	rs111033613
Map	rs111033613
PheGenI	rs111033613
Biobank	rs111033613
1000 genomes	rs111033613
hgdp	rs111033613
ensembl	rs111033613
geneview	rs111033613
scholar	rs111033613
google	rs111033613
pharmgkb	rs111033613
gwascentral	rs111033613
openSNP	rs111033613
23andMe	rs111033613
SNPshot	rs111033613
SNPdbe	rs111033613
MSV3d	rs111033613
GWAS Ctlg	rs111033613

Merged from

Rs28935202

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0030
Related	also

ClinVar
Risk	Rs111033613(T;T)
Alt	Rs111033613(T;T)
Reference	Rs111033613(C;C)
Significance	Pathogenic
Disease	Hereditary factor VIII deficiency disease FACTOR VIII (EAST HARTFORD)
Variation	info
Gene	F8
CLNDBN	Hereditary factor VIII deficiency disease FACTOR VIII (EAST HARTFORD)
Reversed	1
HGVS	NC_000023.10:g.154156943G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010826.3, RCV000010827.2,