rs137852229

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

139537158

Gene

F9

is a	snp
is	mentioned by
dbSNP	rs137852229
dbSNP (classic)	rs137852229
ClinGen	rs137852229
ebi	rs137852229
HLI	rs137852229
Exac	rs137852229
Gnomad	rs137852229
Varsome	rs137852229
LitVar	rs137852229
Map	rs137852229
PheGenI	rs137852229
Biobank	rs137852229
1000 genomes	rs137852229
hgdp	rs137852229
ensembl	rs137852229
geneview	rs137852229
scholar	rs137852229
google	rs137852229
pharmgkb	rs137852229
gwascentral	rs137852229
openSNP	rs137852229
23andMe	rs137852229
SNPshot	rs137852229
SNPdbe	rs137852229
MSV3d	rs137852229
GWAS Ctlg	rs137852229

Max Magnitude

5.5

OMIM	300746
Desc
Variant	0017
Related	also

ClinVar
Risk	Rs137852229(C;C)
Alt	Rs137852229(C;C)
Reference	Rs137852229(A;A)
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.138619317A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011320.7,