rs80338888

Orientation

minus

Stabilized

minus

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

Make rs80338888(-;-)

Make rs80338888(-;GCCGTGGCCCAG)

Reference

GRCh38 38.1/141

Chromosome

7

Position

100627387

Gene

TFR2

is a	snp
is	mentioned by
dbSNP	rs80338888
dbSNP (classic)	rs80338888
ClinGen	rs80338888
ebi	rs80338888
HLI	rs80338888
Exac	rs80338888
Gnomad	rs80338888
Varsome	rs80338888
LitVar	rs80338888
Map	rs80338888
PheGenI	rs80338888
Biobank	rs80338888
1000 genomes	rs80338888
hgdp	rs80338888
ensembl	rs80338888
geneview	rs80338888
scholar	rs80338888
google	rs80338888
pharmgkb	rs80338888
gwascentral	rs80338888
openSNP	rs80338888
23andMe	rs80338888
SNPshot	rs80338888
SNPdbe	rs80338888
MSV3d	rs80338888
GWAS Ctlg	rs80338888

Max Magnitude

0

ClinVar
Risk	rs80338888(-;-)
Alt	rs80338888(-;-)
Reference	Rs80338888(GCCGTGGCCCAG;GCCGTGGCCCAG)
Significance	Pathogenic
Disease	Hemochromatosis type 3
Variation	info
Gene	TFR2
CLNDBN	Hemochromatosis type 3
Reversed	1
HGVS	NC_000007.13:g.100225010_100225021delCTGGGCCACGGC
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020543.1,

[PMID 11984516] Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene.