rs137852383

Orientation

minus

Stabilized

minus

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

Make rs137852383(A;A)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154997050

Gene

F8

is a	snp
is	mentioned by
dbSNP	rs137852383
dbSNP (classic)	rs137852383
ClinGen	rs137852383
ebi	rs137852383
HLI	rs137852383
Exac	rs137852383
Gnomad	rs137852383
Varsome	rs137852383
LitVar	rs137852383
Map	rs137852383
PheGenI	rs137852383
Biobank	rs137852383
1000 genomes	rs137852383
hgdp	rs137852383
ensembl	rs137852383
geneview	rs137852383
scholar	rs137852383
google	rs137852383
pharmgkb	rs137852383
gwascentral	rs137852383
openSNP	rs137852383
23andMe	rs137852383
SNPshot	rs137852383
SNPdbe	rs137852383
MSV3d	rs137852383
GWAS Ctlg	rs137852383

Merged from

Rs28935206

Max Magnitude

3.5

OMIM	306700
Desc
Variant	0083
Related	also

ClinVar
Risk	rs137852383(A;A)
Alt	rs137852383(A;A)
Reference	Rs137852383(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.154225325A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010879.5,