rs137852265

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

139561925

Gene

F9

is a	snp
is	mentioned by
dbSNP	rs137852265
dbSNP (classic)	rs137852265
ClinGen	rs137852265
ebi	rs137852265
HLI	rs137852265
Exac	rs137852265
Gnomad	rs137852265
Varsome	rs137852265
LitVar	rs137852265
Map	rs137852265
PheGenI	rs137852265
Biobank	rs137852265
1000 genomes	rs137852265
hgdp	rs137852265
ensembl	rs137852265
geneview	rs137852265
scholar	rs137852265
google	rs137852265
pharmgkb	rs137852265
gwascentral	rs137852265
openSNP	rs137852265
23andMe	rs137852265
SNPshot	rs137852265
SNPdbe	rs137852265
MSV3d	rs137852265
GWAS Ctlg	rs137852265

Max Magnitude

5.5

OMIM	300746
Desc
Variant	0064
Related	also

ClinVar
Risk	Rs137852265(A;A) rs137852265(T;T)
Alt	Rs137852265(A;A) rs137852265(T;T)
Reference	Rs137852265(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.138644084C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011366.7,