rs137852231

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

139541085

Gene

F9

is a	snp
is	mentioned by
dbSNP	rs137852231
dbSNP (classic)	rs137852231
ClinGen	rs137852231
ebi	rs137852231
HLI	rs137852231
Exac	rs137852231
Gnomad	rs137852231
Varsome	rs137852231
LitVar	rs137852231
Map	rs137852231
PheGenI	rs137852231
Biobank	rs137852231
1000 genomes	rs137852231
hgdp	rs137852231
ensembl	rs137852231
geneview	rs137852231
scholar	rs137852231
google	rs137852231
pharmgkb	rs137852231
gwascentral	rs137852231
openSNP	rs137852231
23andMe	rs137852231
SNPshot	rs137852231
SNPdbe	rs137852231
MSV3d	rs137852231
GWAS Ctlg	rs137852231

Max Magnitude

5.5

OMIM	300746
Desc
Variant	0020
Related	also

ClinVar
Risk	Rs137852231(C;C)
Alt	Rs137852231(C;C)
Reference	Rs137852231(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.138623244A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011323.1,