rs28940586

Orientation

minus

Stabilized

plus

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

Make rs28940586(C;C)

Make rs28940586(C;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

146019594

Gene

HFE2

is a	snp
is	mentioned by
dbSNP	rs28940586
dbSNP (classic)	rs28940586
ClinGen	rs28940586
ebi	rs28940586
HLI	rs28940586
Exac	rs28940586
Gnomad	rs28940586
Varsome	rs28940586
LitVar	rs28940586
Map	rs28940586
PheGenI	rs28940586
Biobank	rs28940586
1000 genomes	rs28940586
hgdp	rs28940586
ensembl	rs28940586
geneview	rs28940586
scholar	rs28940586
google	rs28940586
pharmgkb	rs28940586
gwascentral	rs28940586
openSNP	rs28940586
23andMe	rs28940586
SNPshot	rs28940586
SNPdbe	rs28940586
MSV3d	rs28940586
GWAS Ctlg	rs28940586

Max Magnitude

0

OMIM	608374
Desc	HEMOCHROMATOSIS, TYPE 2A
Variant	0005
Related	also

ClinVar
Risk	rs28940586(C;C) rs28940586(G;G)
Alt	rs28940586(C;C) rs28940586(G;G)
Reference	Rs28940586(T;T)
Significance	Pathogenic
Disease	Hemochromatosis type 2A
Variation	info
Gene	HFE2
CLNDBN	Hemochromatosis type 2A
Reversed	0
HGVS	NC_000001.10:g.145415419T>C; NC_000001.10:g.145415419T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002466.4, RCV000198971.1,