rs137852263

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

139561902

Gene

F9

is a	snp
is	mentioned by
dbSNP	rs137852263
dbSNP (classic)	rs137852263
ClinGen	rs137852263
ebi	rs137852263
HLI	rs137852263
Exac	rs137852263
Gnomad	rs137852263
Varsome	rs137852263
LitVar	rs137852263
Map	rs137852263
PheGenI	rs137852263
Biobank	rs137852263
1000 genomes	rs137852263
hgdp	rs137852263
ensembl	rs137852263
geneview	rs137852263
scholar	rs137852263
google	rs137852263
pharmgkb	rs137852263
gwascentral	rs137852263
openSNP	rs137852263
23andMe	rs137852263
SNPshot	rs137852263
SNPdbe	rs137852263
MSV3d	rs137852263
GWAS Ctlg	rs137852263

Max Magnitude

5.5

OMIM	300746
Desc
Variant	0061
Related	also

ClinVar
Risk	Rs137852263(T;T)
Alt	Rs137852263(T;T)
Reference	Rs137852263(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.138644061C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011363.6,