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rs104893663

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104893663(A;G)
Make rs104893663(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position189571759
GeneSLC40A1
is asnp
is mentioned by
dbSNPrs104893663
dbSNP (classic)rs104893663
ClinGenrs104893663
ebirs104893663
HLIrs104893663
Exacrs104893663
Gnomadrs104893663
Varsomers104893663
LitVarrs104893663
Maprs104893663
PheGenIrs104893663
Biobankrs104893663
1000 genomesrs104893663
hgdprs104893663
ensemblrs104893663
geneviewrs104893663
scholarrs104893663
googlers104893663
pharmgkbrs104893663
gwascentralrs104893663
openSNPrs104893663
23andMers104893663
SNPshotrs104893663
SNPdbers104893663
MSV3drs104893663
GWAS Ctlgrs104893663
Max Magnitude0
OMIM604653
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104893663(G;G)
Alt rs104893663(G;G)
Reference Rs104893663(A;A)
Significance Pathogenic
Disease Hemochromatosis type 4
Variation info
Gene SLC40A1
CLNDBN Hemochromatosis type 4
Reversed 1
HGVS NC_000002.11:g.190436485T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005745.2,