rs137852269

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

139562042

Gene

F9

is a	snp
is	mentioned by
dbSNP	rs137852269
dbSNP (classic)	rs137852269
ClinGen	rs137852269
ebi	rs137852269
HLI	rs137852269
Exac	rs137852269
Gnomad	rs137852269
Varsome	rs137852269
LitVar	rs137852269
Map	rs137852269
PheGenI	rs137852269
Biobank	rs137852269
1000 genomes	rs137852269
hgdp	rs137852269
ensembl	rs137852269
geneview	rs137852269
scholar	rs137852269
google	rs137852269
pharmgkb	rs137852269
gwascentral	rs137852269
openSNP	rs137852269
23andMe	rs137852269
SNPshot	rs137852269
SNPdbe	rs137852269
MSV3d	rs137852269
GWAS Ctlg	rs137852269

Max Magnitude

5.5

OMIM	300746
Desc
Variant	0070
Related	also

ClinVar
Risk	Rs137852269(C;C)
Alt	Rs137852269(C;C)
Reference	Rs137852269(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.138644201T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011372.5,