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rs41303501

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs41303501(A;A)
Make rs41303501(A;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position100629279
GeneTFR2
is asnp
is mentioned by
dbSNPrs41303501
ebirs41303501
HLIrs41303501
Exacrs41303501
Varsomers41303501
Maprs41303501
PheGenIrs41303501
hapmaprs41303501
1000 genomesrs41303501
hgdprs41303501
ensemblrs41303501
gopubmedrs41303501
geneviewrs41303501
scholarrs41303501
googlers41303501
pharmgkbrs41303501
gwascentralrs41303501
openSNPrs41303501
23andMers41303501
23andMe allrs41303501
SNP Nexus

SNPshotrs41303501
SNPdbers41303501
MSV3drs41303501
GWAS Ctlgrs41303501
GMAF0.001377
Max Magnitude0
OMIM604720
Desc
Variant0004
Relatedalso


ClinVar
Risk rs41303501(A;A)
Alt rs41303501(A;A)
Reference rs41303501(G;G)
Significance Other
Disease Hemochromatosis Hemochromatosis type 3 Hemochromatosis type 1
Variation info
Gene TFR2
CLNDBN Hemochromatosis, type 1, modifier of Hemochromatosis type 3 Hemochromatosis type 1
Reversed 1
HGVS NC_000007.13:g.100226902C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005714.3, RCV000020537.1, RCV000168108.2,



[PMID 12150153] Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis.