rs74315323

Orientation

minus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	3	Unaffected carrier of a hemochromatosis mutation

Make rs74315323(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

146018399

Gene

HFE2

is a	snp
is	mentioned by
dbSNP	rs74315323
dbSNP (classic)	rs74315323
ClinGen	rs74315323
ebi	rs74315323
HLI	rs74315323
Exac	rs74315323
Gnomad	rs74315323
Varsome	rs74315323
LitVar	rs74315323
Map	rs74315323
PheGenI	rs74315323
Biobank	rs74315323
1000 genomes	rs74315323
hgdp	rs74315323
ensembl	rs74315323
geneview	rs74315323
scholar	rs74315323
google	rs74315323
pharmgkb	rs74315323
gwascentral	rs74315323
openSNP	rs74315323
23andMe	rs74315323
SNPshot	rs74315323
SNPdbe	rs74315323
MSV3d	rs74315323
GWAS Ctlg	rs74315323

Max Magnitude

3

aka c.959G>T (p.Gly320Val)

FTDNA & MyHeritage name: VG01S2269

OMIM	608374
Desc
Variant	0001
Related	also

ClinVar
Risk	rs74315323(T;T)
Alt	rs74315323(T;T)
Reference	Rs74315323(G;G)
Significance	Pathogenic
Disease	Hemochromatosis type 2A Hemochromatosis type 1
Variation	info
Gene	HFE2
CLNDBN	Hemochromatosis type 2A Hemochromatosis type 1
Reversed	0
HGVS	NC_000001.10:g.145416614G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002461.5, RCV000002462.4,