rs137852249

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

139561566

Gene

F9

is a	snp
is	mentioned by
dbSNP	rs137852249
dbSNP (classic)	rs137852249
ClinGen	rs137852249
ebi	rs137852249
HLI	rs137852249
Exac	rs137852249
Gnomad	rs137852249
Varsome	rs137852249
LitVar	rs137852249
Map	rs137852249
PheGenI	rs137852249
Biobank	rs137852249
1000 genomes	rs137852249
hgdp	rs137852249
ensembl	rs137852249
geneview	rs137852249
scholar	rs137852249
google	rs137852249
pharmgkb	rs137852249
gwascentral	rs137852249
openSNP	rs137852249
23andMe	rs137852249
SNPshot	rs137852249
SNPdbe	rs137852249
MSV3d	rs137852249
GWAS Ctlg	rs137852249

Max Magnitude

5.5

OMIM	300746
Desc
Variant	0045
Related	also

ClinVar
Risk	Rs137852249(A;A)
Alt	Rs137852249(A;A)
Reference	Rs137852249(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.138643725G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011348.7,