rs137852230

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

139541076

Gene

F9

is a	snp
is	mentioned by
dbSNP	rs137852230
dbSNP (classic)	rs137852230
ClinGen	rs137852230
ebi	rs137852230
HLI	rs137852230
Exac	rs137852230
Gnomad	rs137852230
Varsome	rs137852230
LitVar	rs137852230
Map	rs137852230
PheGenI	rs137852230
Biobank	rs137852230
1000 genomes	rs137852230
hgdp	rs137852230
ensembl	rs137852230
geneview	rs137852230
scholar	rs137852230
google	rs137852230
pharmgkb	rs137852230
gwascentral	rs137852230
openSNP	rs137852230
23andMe	rs137852230
SNPshot	rs137852230
SNPdbe	rs137852230
MSV3d	rs137852230
GWAS Ctlg	rs137852230

Max Magnitude

5.5

OMIM	300746
Desc
Variant	0019
Related	also

ClinVar
Risk	Rs137852230(G;G)
Alt	Rs137852230(G;G)
Reference	Rs137852230(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.138623235A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011322.5,