rs28934597

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;G)	3	Carrier of a hemochromatosis variant
(G;G)	0	common in clinvar

Make rs28934597(C;C)

Reference

GRCh38 38.1/141

Chromosome

6

Position

26091041

Gene	HFE, LOC108783645

is a	snp
is	mentioned by
dbSNP	rs28934597
dbSNP (classic)	rs28934597
ClinGen	rs28934597
ebi	rs28934597
HLI	rs28934597
Exac	rs28934597
Gnomad	rs28934597
Varsome	rs28934597
LitVar	rs28934597
Map	rs28934597
PheGenI	rs28934597
Biobank	rs28934597
1000 genomes	rs28934597
hgdp	rs28934597
ensembl	rs28934597
geneview	rs28934597
scholar	rs28934597
google	rs28934597
pharmgkb	rs28934597
gwascentral	rs28934597
openSNP	rs28934597
23andMe	rs28934597
SNPshot	rs28934597
SNPdbe	rs28934597
MSV3d	rs28934597
GWAS Ctlg	rs28934597

Max Magnitude

3

OMIM	235200
Desc	HEMOCHROMATOSIS
Variant	0010
Related	also

OMIM	613609
Desc
Variant	0010
Related	also

ClinVar
Risk	rs28934597(C;C)
Alt	rs28934597(C;C)
Reference	Rs28934597(G;G)
Significance	Pathogenic
Disease	Hemochromatosis type 1
Variation	info
Gene	HFE
CLNDBN	Hemochromatosis type 1
Reversed	0
HGVS	NC_000006.11:g.26091269G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000030.3,