rs137852238

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

139551113

Gene

F9

is a	snp
is	mentioned by
dbSNP	rs137852238
dbSNP (classic)	rs137852238
ClinGen	rs137852238
ebi	rs137852238
HLI	rs137852238
Exac	rs137852238
Gnomad	rs137852238
Varsome	rs137852238
LitVar	rs137852238
Map	rs137852238
PheGenI	rs137852238
Biobank	rs137852238
1000 genomes	rs137852238
hgdp	rs137852238
ensembl	rs137852238
geneview	rs137852238
scholar	rs137852238
google	rs137852238
pharmgkb	rs137852238
gwascentral	rs137852238
openSNP	rs137852238
23andMe	rs137852238
SNPshot	rs137852238
SNPdbe	rs137852238
MSV3d	rs137852238
GWAS Ctlg	rs137852238

Max Magnitude

5.5

OMIM	300746
Desc
Variant	0027
Related	also

ClinVar
Risk	Rs137852238(A;A)
Alt	Rs137852238(A;A)
Reference	Rs137852238(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.138633272G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011331.7,