rs137852268

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

139562013

Gene

F9

is a	snp
is	mentioned by
dbSNP	rs137852268
dbSNP (classic)	rs137852268
ClinGen	rs137852268
ebi	rs137852268
HLI	rs137852268
Exac	rs137852268
Gnomad	rs137852268
Varsome	rs137852268
LitVar	rs137852268
Map	rs137852268
PheGenI	rs137852268
Biobank	rs137852268
1000 genomes	rs137852268
hgdp	rs137852268
ensembl	rs137852268
geneview	rs137852268
scholar	rs137852268
google	rs137852268
pharmgkb	rs137852268
gwascentral	rs137852268
openSNP	rs137852268
23andMe	rs137852268
SNPshot	rs137852268
SNPdbe	rs137852268
MSV3d	rs137852268
GWAS Ctlg	rs137852268

Max Magnitude

5.5

OMIM	300746
Desc
Variant	0069
Related	also

ClinVar
Risk	Rs137852268(C;C)
Alt	Rs137852268(C;C)
Reference	Rs137852268(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.138644172T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011371.7,