rs137852252

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

139561683

Gene

F9

is a	snp
is	mentioned by
dbSNP	rs137852252
dbSNP (classic)	rs137852252
ClinGen	rs137852252
ebi	rs137852252
HLI	rs137852252
Exac	rs137852252
Gnomad	rs137852252
Varsome	rs137852252
LitVar	rs137852252
Map	rs137852252
PheGenI	rs137852252
Biobank	rs137852252
1000 genomes	rs137852252
hgdp	rs137852252
ensembl	rs137852252
geneview	rs137852252
scholar	rs137852252
google	rs137852252
pharmgkb	rs137852252
gwascentral	rs137852252
openSNP	rs137852252
23andMe	rs137852252
SNPshot	rs137852252
SNPdbe	rs137852252
MSV3d	rs137852252
GWAS Ctlg	rs137852252

Max Magnitude

5.5

OMIM	300746
Desc
Variant	0048
Related	also

ClinVar
Risk	Rs137852252(T;T)
Alt	Rs137852252(T;T)
Reference	Rs137852252(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.138643842C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011351.1,