rs111033615

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154904004

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs111033615
dbSNP (classic)	rs111033615
ClinGen	rs111033615
ebi	rs111033615
HLI	rs111033615
Exac	rs111033615
Gnomad	rs111033615
Varsome	rs111033615
LitVar	rs111033615
Map	rs111033615
PheGenI	rs111033615
Biobank	rs111033615
1000 genomes	rs111033615
hgdp	rs111033615
ensembl	rs111033615
geneview	rs111033615
scholar	rs111033615
google	rs111033615
pharmgkb	rs111033615
gwascentral	rs111033615
openSNP	rs111033615
23andMe	rs111033615
SNPshot	rs111033615
SNPdbe	rs111033615
MSV3d	rs111033615
GWAS Ctlg	rs111033615

Merged from

Rs28937295

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0214
Related	also

ClinVar
Risk	Rs111033615(A;A)
Alt	Rs111033615(A;A)
Reference	Rs111033615(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.154132279C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011010.4,