rs137852239

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

139551196

Gene

F9

is a	snp
is	mentioned by
dbSNP	rs137852239
dbSNP (classic)	rs137852239
ClinGen	rs137852239
ebi	rs137852239
HLI	rs137852239
Exac	rs137852239
Gnomad	rs137852239
Varsome	rs137852239
LitVar	rs137852239
Map	rs137852239
PheGenI	rs137852239
Biobank	rs137852239
1000 genomes	rs137852239
hgdp	rs137852239
ensembl	rs137852239
geneview	rs137852239
scholar	rs137852239
google	rs137852239
pharmgkb	rs137852239
gwascentral	rs137852239
openSNP	rs137852239
23andMe	rs137852239
SNPshot	rs137852239
SNPdbe	rs137852239
MSV3d	rs137852239
GWAS Ctlg	rs137852239

Max Magnitude

5.5

OMIM	300746
Desc
Variant	0029
Related	also

ClinVar
Risk	Rs137852239(T;T)
Alt	Rs137852239(T;T)
Reference	Rs137852239(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.138633355C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011335.5,