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rs104893672

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104893672(A;T)
Make rs104893672(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position189565572
GeneSLC40A1
is asnp
is mentioned by
dbSNPrs104893672
dbSNP (classic)rs104893672
ClinGenrs104893672
ebirs104893672
HLIrs104893672
Exacrs104893672
Gnomadrs104893672
Varsomers104893672
LitVarrs104893672
Maprs104893672
PheGenIrs104893672
Biobankrs104893672
1000 genomesrs104893672
hgdprs104893672
ensemblrs104893672
geneviewrs104893672
scholarrs104893672
googlers104893672
pharmgkbrs104893672
gwascentralrs104893672
openSNPrs104893672
23andMers104893672
SNPshotrs104893672
SNPdbers104893672
MSV3drs104893672
GWAS Ctlgrs104893672
Max Magnitude0
OMIM604653
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104893672(T;T)
Alt rs104893672(T;T)
Reference Rs104893672(A;A)
Significance Pathogenic
Disease Hemochromatosis type 4
Variation info
Gene SLC40A1
CLNDBN Hemochromatosis type 4
Reversed 1
HGVS NC_000002.11:g.190430298T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005749.2,