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rs146519482

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a hemochromatosis variant
Make rs146519482(C;C)
Make rs146519482(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position26091475
GeneHFE, LOC108783645
is asnp
is mentioned by
dbSNPrs146519482
dbSNP (classic)rs146519482
ClinGenrs146519482
ebirs146519482
HLIrs146519482
Exacrs146519482
Gnomadrs146519482
Varsomers146519482
LitVarrs146519482
Maprs146519482
PheGenIrs146519482
Biobankrs146519482
1000 genomesrs146519482
hgdprs146519482
ensemblrs146519482
geneviewrs146519482
scholarrs146519482
googlers146519482
pharmgkbrs146519482
gwascentralrs146519482
openSNPrs146519482
23andMers146519482
SNPshotrs146519482
SNPdbers146519482
MSV3drs146519482
GWAS Ctlgrs146519482
Max Magnitude3
ClinVar
Risk rs146519482(C;C) rs146519482(T;T)
Alt rs146519482(C;C) rs146519482(T;T)
Reference Rs146519482(G;G)
Significance Pathogenic
Disease Hemochromatosis type 1
Variation info
Gene HFE
CLNDBN Hemochromatosis type 1
Reversed 0
HGVS NC_000006.11:g.26091703G>C; NC_000006.11:g.26091703G>T
CLNSRC
CLNACC RCV000208047.1, RCV000190906.1,