rs137852281

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

139561874

Gene

F9

is a	snp
is	mentioned by
dbSNP	rs137852281
dbSNP (classic)	rs137852281
ClinGen	rs137852281
ebi	rs137852281
HLI	rs137852281
Exac	rs137852281
Gnomad	rs137852281
Varsome	rs137852281
LitVar	rs137852281
Map	rs137852281
PheGenI	rs137852281
Biobank	rs137852281
1000 genomes	rs137852281
hgdp	rs137852281
ensembl	rs137852281
geneview	rs137852281
scholar	rs137852281
google	rs137852281
pharmgkb	rs137852281
gwascentral	rs137852281
openSNP	rs137852281
23andMe	rs137852281
SNPshot	rs137852281
SNPdbe	rs137852281
MSV3d	rs137852281
GWAS Ctlg	rs137852281

Max Magnitude

5.5

OMIM	300746
Desc
Variant	0104
Related	also

ClinVar
Risk	Rs137852281(C;C)
Alt	Rs137852281(C;C)
Reference	Rs137852281(G;G)
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.138644033G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011407.3,