rs137852244

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

139551250

Gene

F9

is a	snp
is	mentioned by
dbSNP	rs137852244
dbSNP (classic)	rs137852244
ClinGen	rs137852244
ebi	rs137852244
HLI	rs137852244
Exac	rs137852244
Gnomad	rs137852244
Varsome	rs137852244
LitVar	rs137852244
Map	rs137852244
PheGenI	rs137852244
Biobank	rs137852244
1000 genomes	rs137852244
hgdp	rs137852244
ensembl	rs137852244
geneview	rs137852244
scholar	rs137852244
google	rs137852244
pharmgkb	rs137852244
gwascentral	rs137852244
openSNP	rs137852244
23andMe	rs137852244
SNPshot	rs137852244
SNPdbe	rs137852244
MSV3d	rs137852244
GWAS Ctlg	rs137852244

Max Magnitude

5.5

OMIM	300746
Desc
Variant	0035
Related	also

ClinVar
Risk	Rs137852244(T;T)
Alt	Rs137852244(T;T)
Reference	Rs137852244(C;C)
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.138633409C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011341.4,