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rs28939076

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28939076(A;A)
Make rs28939076(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position189575202
GeneSLC40A1
is asnp
is mentioned by
dbSNPrs28939076
ebirs28939076
HLIrs28939076
Exacrs28939076
Varsomers28939076
Maprs28939076
PheGenIrs28939076
hapmaprs28939076
1000 genomesrs28939076
hgdprs28939076
ensemblrs28939076
gopubmedrs28939076
geneviewrs28939076
scholarrs28939076
googlers28939076
pharmgkbrs28939076
gwascentralrs28939076
openSNPrs28939076
23andMers28939076
23andMe allrs28939076
SNP Nexus

SNPshotrs28939076
SNPdbers28939076
MSV3drs28939076
GWAS Ctlgrs28939076
Max Magnitude0
OMIM604653
DescHEMOCHROMATOSIS, TYPE 4
Variant0002
Relatedalso


ClinVar
Risk rs28939076(A;A)
Alt rs28939076(A;A)
Reference rs28939076(C;C)
Significance Pathogenic
Disease Hemochromatosis type 4
Variation info
Gene SLC40A1
CLNDBN Hemochromatosis type 4
Reversed 1
HGVS NC_000002.11:g.190439928G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005744.2,