rs137852243

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
(G;T)	3.5	Carrier of a Hemophilia B mutation
(T;T)	5.5	Hemophilia B (severity varies)

Reference

GRCh38 38.1/141

Chromosome

X

Position

139551223

Gene

F9

is a	snp
is	mentioned by
dbSNP	rs137852243
dbSNP (classic)	rs137852243
ClinGen	rs137852243
ebi	rs137852243
HLI	rs137852243
Exac	rs137852243
Gnomad	rs137852243
Varsome	rs137852243
LitVar	rs137852243
Map	rs137852243
PheGenI	rs137852243
Biobank	rs137852243
1000 genomes	rs137852243
hgdp	rs137852243
ensembl	rs137852243
geneview	rs137852243
scholar	rs137852243
google	rs137852243
pharmgkb	rs137852243
gwascentral	rs137852243
openSNP	rs137852243
23andMe	rs137852243
SNPshot	rs137852243
SNPdbe	rs137852243
MSV3d	rs137852243
GWAS Ctlg	rs137852243

Max Magnitude

5.5

OMIM	300746
Desc
Variant	0033
Related	also

OMIM	300746
Desc
Variant	0034
Related	also

ClinVar
Risk	Rs137852243(C;C) Rs137852243(T;T)
Alt	Rs137852243(C;C) Rs137852243(T;T)
Reference	Rs137852243(G;G)
Significance	Pathogenic
Disease	Hemophilia b(m) Hereditary factor IX deficiency disease
Variation	info
Gene	F9
CLNDBN	Hemophilia b(m) Hereditary factor IX deficiency disease
Reversed	0
HGVS	NC_000023.10:g.138633382G>C; NC_000023.10:g.138633382G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011340.2, RCV000011339.2,