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rs104893671

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893671(G;T)
Make rs104893671(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position189564018
GeneSLC40A1
is asnp
is mentioned by
dbSNPrs104893671
ebirs104893671
HLIrs104893671
Exacrs104893671
Varsomers104893671
Maprs104893671
PheGenIrs104893671
hapmaprs104893671
1000 genomesrs104893671
hgdprs104893671
ensemblrs104893671
gopubmedrs104893671
geneviewrs104893671
scholarrs104893671
googlers104893671
pharmgkbrs104893671
gwascentralrs104893671
openSNPrs104893671
23andMers104893671
23andMe allrs104893671
SNP Nexus

SNPshotrs104893671
SNPdbers104893671
MSV3drs104893671
GWAS Ctlgrs104893671
Max Magnitude0
OMIM604653
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104893671(T;T)
Alt rs104893671(T;T)
Reference rs104893671(G;G)
Significance Pathogenic
Disease Hemochromatosis type 4
Variation info
Gene SLC40A1
CLNDBN Hemochromatosis type 4
Reversed 1
HGVS NC_000002.11:g.190428744C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005748.2,