rs137852417

Orientation

minus

Stabilized

minus

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

Make rs137852417(C;T)

Make rs137852417(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154957061

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852417
dbSNP (classic)	rs137852417
ClinGen	rs137852417
ebi	rs137852417
HLI	rs137852417
Exac	rs137852417
Gnomad	rs137852417
Varsome	rs137852417
LitVar	rs137852417
Map	rs137852417
PheGenI	rs137852417
Biobank	rs137852417
1000 genomes	rs137852417
hgdp	rs137852417
ensembl	rs137852417
geneview	rs137852417
scholar	rs137852417
google	rs137852417
pharmgkb	rs137852417
gwascentral	rs137852417
openSNP	rs137852417
23andMe	rs137852417
SNPshot	rs137852417
SNPdbe	rs137852417
MSV3d	rs137852417
GWAS Ctlg	rs137852417

Merged from

Rs28937278

Max Magnitude

0

OMIM	306700
Desc
Variant	0140
Related	also

OMIM	306700
Desc
Variant	0141
Related	also

ClinVar
Risk	rs137852417(G;G) rs137852417(T;T)
Alt	rs137852417(G;G) rs137852417(T;T)
Reference	Rs137852417(C;C)
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.154185336G>A; NC_000023.10:g.154185336G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010936.3, RCV000010937.4,