rs137852251

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;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

139561602

Gene

F9

is a	snp
is	mentioned by
dbSNP	rs137852251
dbSNP (classic)	rs137852251
ClinGen	rs137852251
ebi	rs137852251
HLI	rs137852251
Exac	rs137852251
Gnomad	rs137852251
Varsome	rs137852251
LitVar	rs137852251
Map	rs137852251
PheGenI	rs137852251
Biobank	rs137852251
1000 genomes	rs137852251
hgdp	rs137852251
ensembl	rs137852251
geneview	rs137852251
scholar	rs137852251
google	rs137852251
pharmgkb	rs137852251
gwascentral	rs137852251
openSNP	rs137852251
23andMe	rs137852251
SNPshot	rs137852251
SNPdbe	rs137852251
MSV3d	rs137852251
GWAS Ctlg	rs137852251

Max Magnitude

5.5

OMIM	300746
Desc
Variant	0047
Related	also

ClinVar
Risk	Rs137852251(G;G)
Alt	Rs137852251(G;G)
Reference	Rs137852251(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.138643761A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011350.5,