rs137852272

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

139548455

Gene

F9

is a	snp
is	mentioned by
dbSNP	rs137852272
dbSNP (classic)	rs137852272
ClinGen	rs137852272
ebi	rs137852272
HLI	rs137852272
Exac	rs137852272
Gnomad	rs137852272
Varsome	rs137852272
LitVar	rs137852272
Map	rs137852272
PheGenI	rs137852272
Biobank	rs137852272
1000 genomes	rs137852272
hgdp	rs137852272
ensembl	rs137852272
geneview	rs137852272
scholar	rs137852272
google	rs137852272
pharmgkb	rs137852272
gwascentral	rs137852272
openSNP	rs137852272
23andMe	rs137852272
SNPshot	rs137852272
SNPdbe	rs137852272
MSV3d	rs137852272
GWAS Ctlg	rs137852272

Max Magnitude

5.5

OMIM	300746
Desc
Variant	0084
Related	also

ClinVar
Risk	Rs137852272(T;T)
Alt	Rs137852272(T;T)
Reference	Rs137852272(C;C)
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.138630614C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011386.4,