rs80338887

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs80338887(-;-)

Make rs80338887(-;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

100627761

Gene

TFR2

is a	snp
is	mentioned by
dbSNP	rs80338887
dbSNP (classic)	rs80338887
ClinGen	rs80338887
ebi	rs80338887
HLI	rs80338887
Exac	rs80338887
Gnomad	rs80338887
Varsome	rs80338887
LitVar	rs80338887
Map	rs80338887
PheGenI	rs80338887
Biobank	rs80338887
1000 genomes	rs80338887
hgdp	rs80338887
ensembl	rs80338887
geneview	rs80338887
scholar	rs80338887
google	rs80338887
pharmgkb	rs80338887
gwascentral	rs80338887
openSNP	rs80338887
23andMe	rs80338887
SNPshot	rs80338887
SNPdbe	rs80338887
MSV3d	rs80338887
GWAS Ctlg	rs80338887

Max Magnitude

0

ClinVar
Risk	rs80338887(-;-)
Alt	rs80338887(-;-)
Reference	Rs80338887(C;C)
Significance	Pathogenic
Disease	Hemochromatosis type 3
Variation	info
Gene	TFR2
CLNDBN	Hemochromatosis type 3
Reversed	1
HGVS	NC_000007.13:g.100225384delG
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020540.1,

[PMID 15749661] Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis.