rs80338876

Orientation

minus

Stabilized

minus

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

Make rs80338876(A;A)

Make rs80338876(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

100641198

Gene

TFR2

is a	snp
is	mentioned by
dbSNP	rs80338876
dbSNP (classic)	rs80338876
ClinGen	rs80338876
ebi	rs80338876
HLI	rs80338876
Exac	rs80338876
Gnomad	rs80338876
Varsome	rs80338876
LitVar	rs80338876
Map	rs80338876
PheGenI	rs80338876
Biobank	rs80338876
1000 genomes	rs80338876
hgdp	rs80338876
ensembl	rs80338876
geneview	rs80338876
scholar	rs80338876
google	rs80338876
pharmgkb	rs80338876
gwascentral	rs80338876
openSNP	rs80338876
23andMe	rs80338876
SNPshot	rs80338876
SNPdbe	rs80338876
MSV3d	rs80338876
GWAS Ctlg	rs80338876

GMAF

0.0004591

Max Magnitude

0

ClinVar
Risk	rs80338876(A;A)
Alt	rs80338876(A;A)
Reference	Rs80338876(G;G)
Significance	Pathogenic
Disease	Hemochromatosis type 3
Variation	info
Gene	TFR2
CLNDBN	Hemochromatosis type 3
Reversed	1
HGVS	NC_000007.13:g.100238821C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020550.1,

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