rs137852274

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

139541126

Gene

F9

is a	snp
is	mentioned by
dbSNP	rs137852274
dbSNP (classic)	rs137852274
ClinGen	rs137852274
ebi	rs137852274
HLI	rs137852274
Exac	rs137852274
Gnomad	rs137852274
Varsome	rs137852274
LitVar	rs137852274
Map	rs137852274
PheGenI	rs137852274
Biobank	rs137852274
1000 genomes	rs137852274
hgdp	rs137852274
ensembl	rs137852274
geneview	rs137852274
scholar	rs137852274
google	rs137852274
pharmgkb	rs137852274
gwascentral	rs137852274
openSNP	rs137852274
23andMe	rs137852274
SNPshot	rs137852274
SNPdbe	rs137852274
MSV3d	rs137852274
GWAS Ctlg	rs137852274

Max Magnitude

5.5

OMIM	300746
Desc
Variant	0087
Related	also

ClinVar
Risk	Rs137852274(A;A)
Alt	Rs137852274(A;A)
Reference	Rs137852274(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.138623285G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011389.7,