rs111033616

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154966065

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs111033616
dbSNP (classic)	rs111033616
ClinGen	rs111033616
ebi	rs111033616
HLI	rs111033616
Exac	rs111033616
Gnomad	rs111033616
Varsome	rs111033616
LitVar	rs111033616
Map	rs111033616
PheGenI	rs111033616
Biobank	rs111033616
1000 genomes	rs111033616
hgdp	rs111033616
ensembl	rs111033616
geneview	rs111033616
scholar	rs111033616
google	rs111033616
pharmgkb	rs111033616
gwascentral	rs111033616
openSNP	rs111033616
23andMe	rs111033616
SNPshot	rs111033616
SNPdbe	rs111033616
MSV3d	rs111033616
GWAS Ctlg	rs111033616

Merged from

Rs28937273

Max Magnitude

5.5

OMIM	306700
Desc
Variant	0130
Related	also

ClinVar
Risk	Rs111033616(A;A)
Alt	Rs111033616(A;A)
Reference	Rs111033616(T;T)
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.154194340A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010926.5,