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rs104893664

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893664(A;A)
Make rs104893664(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position189564186
GeneSLC40A1
is asnp
is mentioned by
dbSNPrs104893664
dbSNP (classic)rs104893664
ClinGenrs104893664
ebirs104893664
HLIrs104893664
Exacrs104893664
Gnomadrs104893664
Varsomers104893664
LitVarrs104893664
Maprs104893664
PheGenIrs104893664
Biobankrs104893664
1000 genomesrs104893664
hgdprs104893664
ensemblrs104893664
geneviewrs104893664
scholarrs104893664
googlers104893664
pharmgkbrs104893664
gwascentralrs104893664
openSNPrs104893664
23andMers104893664
SNPshotrs104893664
SNPdbers104893664
MSV3drs104893664
GWAS Ctlgrs104893664
Max Magnitude0
OMIM604653
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104893664(A;A)
Alt rs104893664(A;A)
Reference Rs104893664(G;G)
Significance Pathogenic
Disease Hemochromatosis type 4
Variation info
Gene SLC40A1
CLNDBN Hemochromatosis type 4
Reversed 1
HGVS NC_000002.11:g.190428912C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005751.2,