rs80338880

Orientation

minus

Stabilized

minus

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

Make rs80338880(C;G)

Make rs80338880(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

100633100

Gene

TFR2

is a	snp
is	mentioned by
dbSNP	rs80338880
dbSNP (classic)	rs80338880
ClinGen	rs80338880
ebi	rs80338880
HLI	rs80338880
Exac	rs80338880
Gnomad	rs80338880
Varsome	rs80338880
LitVar	rs80338880
Map	rs80338880
PheGenI	rs80338880
Biobank	rs80338880
1000 genomes	rs80338880
hgdp	rs80338880
ensembl	rs80338880
geneview	rs80338880
scholar	rs80338880
google	rs80338880
pharmgkb	rs80338880
gwascentral	rs80338880
openSNP	rs80338880
23andMe	rs80338880
SNPshot	rs80338880
SNPdbe	rs80338880
MSV3d	rs80338880
GWAS Ctlg	rs80338880

Max Magnitude

0

OMIM	604720
Desc
Variant	0001
Related	also

ClinVar
Risk	rs80338880(G;G)
Alt	rs80338880(G;G)
Reference	Rs80338880(C;C)
Significance	Pathogenic
Disease	Hemochromatosis type 3
Variation	info
Gene	TFR2
CLNDBN	Hemochromatosis type 3
Reversed	1
HGVS	NC_000007.13:g.100230723G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005711.1,

[PMID 10802645] The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.