rs80338881

Orientation

minus

Stabilized

minus

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

Make rs80338881(C;T)

Make rs80338881(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

100632099

Gene

TFR2

is a	snp
is	mentioned by
dbSNP	rs80338881
dbSNP (classic)	rs80338881
ClinGen	rs80338881
ebi	rs80338881
HLI	rs80338881
Exac	rs80338881
Gnomad	rs80338881
Varsome	rs80338881
LitVar	rs80338881
Map	rs80338881
PheGenI	rs80338881
Biobank	rs80338881
1000 genomes	rs80338881
hgdp	rs80338881
ensembl	rs80338881
geneview	rs80338881
scholar	rs80338881
google	rs80338881
pharmgkb	rs80338881
gwascentral	rs80338881
openSNP	rs80338881
23andMe	rs80338881
SNPshot	rs80338881
SNPdbe	rs80338881
MSV3d	rs80338881
GWAS Ctlg	rs80338881

Max Magnitude

0

ClinVar
Risk	rs80338881(T;T)
Alt	rs80338881(T;T)
Reference	Rs80338881(C;C)
Significance	Pathogenic
Disease	Hemochromatosis type 3
Variation	info
Gene	TFR2
CLNDBN	Hemochromatosis type 3
Reversed	1
HGVS	NC_000007.13:g.100229722G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020552.1,

[PMID 15685557] Juvenile hemochromatosis associated with pathogenic mutations of adult hemochromatosis genes.