rs28934595

Orientation

plus

Stabilized

plus

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

Make rs28934595(C;C)

Reference

GRCh38 38.1/141

Chromosome

6

Position

26091354

Gene	HFE, LOC108783645

is a	snp
is	mentioned by
dbSNP	rs28934595
dbSNP (classic)	rs28934595
ClinGen	rs28934595
ebi	rs28934595
HLI	rs28934595
Exac	rs28934595
Gnomad	rs28934595
Varsome	rs28934595
LitVar	rs28934595
Map	rs28934595
PheGenI	rs28934595
Biobank	rs28934595
1000 genomes	rs28934595
hgdp	rs28934595
ensembl	rs28934595
geneview	rs28934595
scholar	rs28934595
google	rs28934595
pharmgkb	rs28934595
gwascentral	rs28934595
openSNP	rs28934595
23andMe	rs28934595
SNPshot	rs28934595
SNPdbe	rs28934595
MSV3d	rs28934595
GWAS Ctlg	rs28934595

Max Magnitude

3

OMIM	235200
Desc	PORPHYRIA VARIEGATA
Variant	0007
Related	also

OMIM	613609
Desc
Variant	0007
Related	also

Porphyria

ClinVar
Risk	rs28934595(C;C)
Alt	rs28934595(C;C)
Reference	Rs28934595(A;A)
Significance	Pathogenic
Disease	Hemochromatosis type 1
Variation	info
Gene	HFE
CLNDBN	Hemochromatosis type 1
Reversed	0
HGVS	NC_000006.11:g.26091582A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000034.4,