rs387906479

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(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

139561773

Gene

F9

is a	snp
is	mentioned by
dbSNP	rs387906479
dbSNP (classic)	rs387906479
ClinGen	rs387906479
ebi	rs387906479
HLI	rs387906479
Exac	rs387906479
Gnomad	rs387906479
Varsome	rs387906479
LitVar	rs387906479
Map	rs387906479
PheGenI	rs387906479
Biobank	rs387906479
1000 genomes	rs387906479
hgdp	rs387906479
ensembl	rs387906479
geneview	rs387906479
scholar	rs387906479
google	rs387906479
pharmgkb	rs387906479
gwascentral	rs387906479
openSNP	rs387906479
23andMe	rs387906479
SNPshot	rs387906479
SNPdbe	rs387906479
MSV3d	rs387906479
GWAS Ctlg	rs387906479

Max Magnitude

5.5

ClinVar
Risk	Rs387906479(T;T)
Alt	Rs387906479(T;T)
Reference	Rs387906479(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.138643932G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011364.5,