rs137852267

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

139562009

Gene

F9

is a	snp
is	mentioned by
dbSNP	rs137852267
dbSNP (classic)	rs137852267
ClinGen	rs137852267
ebi	rs137852267
HLI	rs137852267
Exac	rs137852267
Gnomad	rs137852267
Varsome	rs137852267
LitVar	rs137852267
Map	rs137852267
PheGenI	rs137852267
Biobank	rs137852267
1000 genomes	rs137852267
hgdp	rs137852267
ensembl	rs137852267
geneview	rs137852267
scholar	rs137852267
google	rs137852267
pharmgkb	rs137852267
gwascentral	rs137852267
openSNP	rs137852267
23andMe	rs137852267
SNPshot	rs137852267
SNPdbe	rs137852267
MSV3d	rs137852267
GWAS Ctlg	rs137852267

Max Magnitude

5.5

OMIM	300746
Desc
Variant	0068
Related	also

ClinVar
Risk	Rs137852267(A;A)
Alt	Rs137852267(A;A)
Reference	Rs137852267(G;G)
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.138644168G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011370.3,