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rs104893673

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893673(G;T)
Make rs104893673(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position189575193
GeneSLC40A1
is asnp
is mentioned by
dbSNPrs104893673
dbSNP (classic)rs104893673
ClinGenrs104893673
ebirs104893673
HLIrs104893673
Exacrs104893673
Gnomadrs104893673
Varsomers104893673
LitVarrs104893673
Maprs104893673
PheGenIrs104893673
Biobankrs104893673
1000 genomesrs104893673
hgdprs104893673
ensemblrs104893673
geneviewrs104893673
scholarrs104893673
googlers104893673
pharmgkbrs104893673
gwascentralrs104893673
openSNPrs104893673
23andMers104893673
SNPshotrs104893673
SNPdbers104893673
MSV3drs104893673
GWAS Ctlgrs104893673
Max Magnitude0
OMIM604653
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104893673(T;T)
Alt rs104893673(T;T)
Reference Rs104893673(G;G)
Significance Pathogenic
Disease Hemochromatosis type 4
Variation info
Gene SLC40A1
CLNDBN Hemochromatosis type 4
Reversed 1
HGVS NC_000002.11:g.190439919C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005750.2,