rs137852275

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

139561755

Gene

F9

is a	snp
is	mentioned by
dbSNP	rs137852275
dbSNP (classic)	rs137852275
ClinGen	rs137852275
ebi	rs137852275
HLI	rs137852275
Exac	rs137852275
Gnomad	rs137852275
Varsome	rs137852275
LitVar	rs137852275
Map	rs137852275
PheGenI	rs137852275
Biobank	rs137852275
1000 genomes	rs137852275
hgdp	rs137852275
ensembl	rs137852275
geneview	rs137852275
scholar	rs137852275
google	rs137852275
pharmgkb	rs137852275
gwascentral	rs137852275
openSNP	rs137852275
23andMe	rs137852275
SNPshot	rs137852275
SNPdbe	rs137852275
MSV3d	rs137852275
GWAS Ctlg	rs137852275

Max Magnitude

5.5

OMIM	300746
Desc
Variant	0091
Related	also

ClinVar
Risk	Rs137852275(A;A)
Alt	Rs137852275(A;A)
Reference	Rs137852275(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.138643914G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011393.4,