rs137852246

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

139560821

Gene

F9

is a	snp
is	mentioned by
dbSNP	rs137852246
dbSNP (classic)	rs137852246
ClinGen	rs137852246
ebi	rs137852246
HLI	rs137852246
Exac	rs137852246
Gnomad	rs137852246
Varsome	rs137852246
LitVar	rs137852246
Map	rs137852246
PheGenI	rs137852246
Biobank	rs137852246
1000 genomes	rs137852246
hgdp	rs137852246
ensembl	rs137852246
geneview	rs137852246
scholar	rs137852246
google	rs137852246
pharmgkb	rs137852246
gwascentral	rs137852246
openSNP	rs137852246
23andMe	rs137852246
SNPshot	rs137852246
SNPdbe	rs137852246
MSV3d	rs137852246
GWAS Ctlg	rs137852246

Max Magnitude

5.5

OMIM	300746
Desc
Variant	0040
Related	also

ClinVar
Risk	Rs137852246(G;G)
Alt	Rs137852246(G;G)
Reference	Rs137852246(T;T)
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.138642980T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011345.4,