rs137852259

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

139561821

Gene

F9

is a	snp
is	mentioned by
dbSNP	rs137852259
dbSNP (classic)	rs137852259
ClinGen	rs137852259
ebi	rs137852259
HLI	rs137852259
Exac	rs137852259
Gnomad	rs137852259
Varsome	rs137852259
LitVar	rs137852259
Map	rs137852259
PheGenI	rs137852259
Biobank	rs137852259
1000 genomes	rs137852259
hgdp	rs137852259
ensembl	rs137852259
geneview	rs137852259
scholar	rs137852259
google	rs137852259
pharmgkb	rs137852259
gwascentral	rs137852259
openSNP	rs137852259
23andMe	rs137852259
SNPshot	rs137852259
SNPdbe	rs137852259
MSV3d	rs137852259
GWAS Ctlg	rs137852259

Max Magnitude

5.5

OMIM	300746
Desc
Variant	0056
Related	also

ClinVar
Risk	Rs137852259(A;A)
Alt	Rs137852259(A;A)
Reference	Rs137852259(G;G)
Significance	Pathogenic
Disease	Hereditary factor IX deficiency disease
Variation	info
Gene	F9
CLNDBN	Hereditary factor IX deficiency disease
Reversed	0
HGVS	NC_000023.10:g.138643980G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011359.7,