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rs104893662

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104893662(A;C)
Make rs104893662(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position189571799
GeneSLC40A1
is asnp
is mentioned by
dbSNPrs104893662
dbSNP (classic)rs104893662
ClinGenrs104893662
ebirs104893662
HLIrs104893662
Exacrs104893662
Gnomadrs104893662
Varsomers104893662
LitVarrs104893662
Maprs104893662
PheGenIrs104893662
Biobankrs104893662
1000 genomesrs104893662
hgdprs104893662
ensemblrs104893662
geneviewrs104893662
scholarrs104893662
googlers104893662
pharmgkbrs104893662
gwascentralrs104893662
openSNPrs104893662
23andMers104893662
SNPshotrs104893662
SNPdbers104893662
MSV3drs104893662
GWAS Ctlgrs104893662
Max Magnitude0
OMIM604653
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104893662(C;C) rs104893662(T;T)
Alt rs104893662(C;C) rs104893662(T;T)
Reference Rs104893662(A;A)
Significance Pathogenic
Disease Hemochromatosis type 4
Variation info
Gene SLC40A1
CLNDBN Hemochromatosis type 4
Reversed 1
HGVS NC_000002.11:g.190436525T>A; NC_000002.11:g.190436525T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000234752.1, RCV000005743.2,