rs80338883

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(AAC;AAC)	0	common in clinvar
(ACA;ACA)	0	common in clinvar

Make rs80338883(-;-)

Make rs80338883(-;AAC)

Reference

GRCh38 38.1/141

Chromosome

7

Position

100630926

Gene

TFR2

is a	snp
is	mentioned by
dbSNP	rs80338883
dbSNP (classic)	rs80338883
ClinGen	rs80338883
ebi	rs80338883
HLI	rs80338883
Exac	rs80338883
Gnomad	rs80338883
Varsome	rs80338883
LitVar	rs80338883
Map	rs80338883
PheGenI	rs80338883
Biobank	rs80338883
1000 genomes	rs80338883
hgdp	rs80338883
ensembl	rs80338883
geneview	rs80338883
scholar	rs80338883
google	rs80338883
pharmgkb	rs80338883
gwascentral	rs80338883
openSNP	rs80338883
23andMe	rs80338883
SNPshot	rs80338883
SNPdbe	rs80338883
MSV3d	rs80338883
GWAS Ctlg	rs80338883

Max Magnitude

0

ClinVar
Risk	Rs80338883(ACA;ACA) rs80338883(-;-)
Alt	Rs80338883(ACA;ACA) rs80338883(-;-)
Reference	Rs80338883(AAC;AAC)
Significance	Pathogenic
Disease	Hemochromatosis type 3
Variation	info
Gene	TFR2
CLNDBN	Hemochromatosis type 3
Reversed	1
HGVS	NC_000007.13:g.100228549_100228551delGTT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020535.1,

[PMID 18245657] New TFR2 mutations in young Italian patients with hemochromatosis.