rs137852250

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

139561577

Gene

F9

is a	snp
is	mentioned by
dbSNP	rs137852250
dbSNP (classic)	rs137852250
ClinGen	rs137852250
ebi	rs137852250
HLI	rs137852250
Exac	rs137852250
Gnomad	rs137852250
Varsome	rs137852250
LitVar	rs137852250
Map	rs137852250
PheGenI	rs137852250
Biobank	rs137852250
1000 genomes	rs137852250
hgdp	rs137852250
ensembl	rs137852250
geneview	rs137852250
scholar	rs137852250
google	rs137852250
pharmgkb	rs137852250
gwascentral	rs137852250
openSNP	rs137852250
23andMe	rs137852250
SNPshot	rs137852250
SNPdbe	rs137852250
MSV3d	rs137852250
GWAS Ctlg	rs137852250

Max Magnitude

5.5

OMIM	300746
Desc
Variant	0046
Related	also

ClinVar
Risk	Rs137852250(T;T)
Alt	Rs137852250(T;T)
Reference	Rs137852250(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.138643736C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011349.2,