rs137852232

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

139541099

Gene

F9

is a	snp
is	mentioned by
dbSNP	rs137852232
dbSNP (classic)	rs137852232
ClinGen	rs137852232
ebi	rs137852232
HLI	rs137852232
Exac	rs137852232
Gnomad	rs137852232
Varsome	rs137852232
LitVar	rs137852232
Map	rs137852232
PheGenI	rs137852232
Biobank	rs137852232
1000 genomes	rs137852232
hgdp	rs137852232
ensembl	rs137852232
geneview	rs137852232
scholar	rs137852232
google	rs137852232
pharmgkb	rs137852232
gwascentral	rs137852232
openSNP	rs137852232
23andMe	rs137852232
SNPshot	rs137852232
SNPdbe	rs137852232
MSV3d	rs137852232
GWAS Ctlg	rs137852232

Max Magnitude

5.5

OMIM	300746
Desc
Variant	0021
Related	also

ClinVar
Risk	Rs137852232(G;G)
Alt	Rs137852232(G;G)
Reference	Rs137852232(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.138623258C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011324.6,