rs137852237

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;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

139551112

Gene

F9

is a	snp
is	mentioned by
dbSNP	rs137852237
dbSNP (classic)	rs137852237
ClinGen	rs137852237
ebi	rs137852237
HLI	rs137852237
Exac	rs137852237
Gnomad	rs137852237
Varsome	rs137852237
LitVar	rs137852237
Map	rs137852237
PheGenI	rs137852237
Biobank	rs137852237
1000 genomes	rs137852237
hgdp	rs137852237
ensembl	rs137852237
geneview	rs137852237
scholar	rs137852237
google	rs137852237
pharmgkb	rs137852237
gwascentral	rs137852237
openSNP	rs137852237
23andMe	rs137852237
SNPshot	rs137852237
SNPdbe	rs137852237
MSV3d	rs137852237
GWAS Ctlg	rs137852237

Max Magnitude

5.5

OMIM	300746
Desc
Variant	0026
Related	also

ClinVar
Risk	rs137852237(A;A) Rs137852237(T;T)
Alt	rs137852237(A;A) Rs137852237(T;T)
Reference	Rs137852237(C;C)
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.138633271C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011330.5,