rs111033614

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

154928667

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs111033614
dbSNP (classic)	rs111033614
ClinGen	rs111033614
ebi	rs111033614
HLI	rs111033614
Exac	rs111033614
Gnomad	rs111033614
Varsome	rs111033614
LitVar	rs111033614
Map	rs111033614
PheGenI	rs111033614
Biobank	rs111033614
1000 genomes	rs111033614
hgdp	rs111033614
ensembl	rs111033614
geneview	rs111033614
scholar	rs111033614
google	rs111033614
pharmgkb	rs111033614
gwascentral	rs111033614
openSNP	rs111033614
23andMe	rs111033614
SNPshot	rs111033614
SNPdbe	rs111033614
MSV3d	rs111033614
GWAS Ctlg	rs111033614

Merged from

Rs28937286

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0183
Related	also

ClinVar
Risk	Rs111033614(A;A)
Alt	Rs111033614(A;A)
Reference	Rs111033614(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.154156942C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010979.3,