rs137852271

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

139561805

Gene

F9

is a	snp
is	mentioned by
dbSNP	rs137852271
dbSNP (classic)	rs137852271
ClinGen	rs137852271
ebi	rs137852271
HLI	rs137852271
Exac	rs137852271
Gnomad	rs137852271
Varsome	rs137852271
LitVar	rs137852271
Map	rs137852271
PheGenI	rs137852271
Biobank	rs137852271
1000 genomes	rs137852271
hgdp	rs137852271
ensembl	rs137852271
geneview	rs137852271
scholar	rs137852271
google	rs137852271
pharmgkb	rs137852271
gwascentral	rs137852271
openSNP	rs137852271
23andMe	rs137852271
SNPshot	rs137852271
SNPdbe	rs137852271
MSV3d	rs137852271
GWAS Ctlg	rs137852271

Max Magnitude

5.5

OMIM	300746
Desc
Variant	0083
Related	also

ClinVar
Risk	Rs137852271(T;T)
Alt	Rs137852271(T;T)
Reference	Rs137852271(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.138643964G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011385.4,