rs137852233

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

139541114

Gene

F9

is a	snp
is	mentioned by
dbSNP	rs137852233
dbSNP (classic)	rs137852233
ClinGen	rs137852233
ebi	rs137852233
HLI	rs137852233
Exac	rs137852233
Gnomad	rs137852233
Varsome	rs137852233
LitVar	rs137852233
Map	rs137852233
PheGenI	rs137852233
Biobank	rs137852233
1000 genomes	rs137852233
hgdp	rs137852233
ensembl	rs137852233
geneview	rs137852233
scholar	rs137852233
google	rs137852233
pharmgkb	rs137852233
gwascentral	rs137852233
openSNP	rs137852233
23andMe	rs137852233
SNPshot	rs137852233
SNPdbe	rs137852233
MSV3d	rs137852233
GWAS Ctlg	rs137852233

Max Magnitude

5.5

OMIM	300746
Desc
Variant	0022
Related	also

ClinVar
Risk	Rs137852233(A;A)
Alt	Rs137852233(A;A)
Reference	Rs137852233(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.138623273G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011325.7,