rs137852277

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

139561916

Gene

F9

is a	snp
is	mentioned by
dbSNP	rs137852277
dbSNP (classic)	rs137852277
ClinGen	rs137852277
ebi	rs137852277
HLI	rs137852277
Exac	rs137852277
Gnomad	rs137852277
Varsome	rs137852277
LitVar	rs137852277
Map	rs137852277
PheGenI	rs137852277
Biobank	rs137852277
1000 genomes	rs137852277
hgdp	rs137852277
ensembl	rs137852277
geneview	rs137852277
scholar	rs137852277
google	rs137852277
pharmgkb	rs137852277
gwascentral	rs137852277
openSNP	rs137852277
23andMe	rs137852277
SNPshot	rs137852277
SNPdbe	rs137852277
MSV3d	rs137852277
GWAS Ctlg	rs137852277

Max Magnitude

5.5

OMIM	300746
Desc
Variant	0094
Related	also

ClinVar
Risk	Rs137852277(G;G)
Alt	Rs137852277(G;G)
Reference	Rs137852277(A;A)
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.138644075A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011396.7,