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rs1060501102

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501102(A;A)
Make rs1060501102(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position189562125
GeneSLC40A1
is asnp
is mentioned by
dbSNPrs1060501102
dbSNP (classic)rs1060501102
ClinGenrs1060501102
ebirs1060501102
HLIrs1060501102
Exacrs1060501102
Gnomadrs1060501102
Varsomers1060501102
LitVarrs1060501102
Maprs1060501102
PheGenIrs1060501102
Biobankrs1060501102
1000 genomesrs1060501102
hgdprs1060501102
ensemblrs1060501102
geneviewrs1060501102
scholarrs1060501102
googlers1060501102
pharmgkbrs1060501102
gwascentralrs1060501102
openSNPrs1060501102
23andMers1060501102
SNPshotrs1060501102
SNPdbers1060501102
MSV3drs1060501102
GWAS Ctlgrs1060501102
Max Magnitude0
ClinVar
Risk rs1060501102(A;A)
Alt rs1060501102(A;A)
Reference Rs1060501102(G;G)
Significance Pathogenic
Disease Hemochromatosis type 4
Variation info
Gene SLC40A1
CLNDBN Hemochromatosis type 4
Reversed 1
HGVS NC_000002.11:g.190426851C>T
CLNSRC
CLNACC RCV000457416.1,