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rs104893670

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893670(G;T)
Make rs104893670(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position189565568
GeneSLC40A1
is asnp
is mentioned by
dbSNPrs104893670
dbSNP (classic)rs104893670
ClinGenrs104893670
ebirs104893670
HLIrs104893670
Exacrs104893670
Gnomadrs104893670
Varsomers104893670
LitVarrs104893670
Maprs104893670
PheGenIrs104893670
Biobankrs104893670
1000 genomesrs104893670
hgdprs104893670
ensemblrs104893670
geneviewrs104893670
scholarrs104893670
googlers104893670
pharmgkbrs104893670
gwascentralrs104893670
openSNPrs104893670
23andMers104893670
SNPshotrs104893670
SNPdbers104893670
MSV3drs104893670
GWAS Ctlgrs104893670
Max Magnitude0
OMIM604653
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104893670(T;T)
Alt rs104893670(T;T)
Reference Rs104893670(G;G)
Significance Pathogenic
Disease Hemochromatosis type 4
Variation info
Gene SLC40A1
CLNDBN Hemochromatosis type 4
Reversed 1
HGVS NC_000002.11:g.190430294C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005746.2,