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rs2692696

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs2692696(C;T)
Make rs2692696(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position133766289
GeneTF
is asnp
is mentioned by
dbSNPrs2692696
ebirs2692696
HLIrs2692696
Exacrs2692696
Varsomers2692696
Maprs2692696
PheGenIrs2692696
hapmaprs2692696
1000 genomesrs2692696
hgdprs2692696
ensemblrs2692696
gopubmedrs2692696
geneviewrs2692696
scholarrs2692696
googlers2692696
pharmgkbrs2692696
gwascentralrs2692696
openSNPrs2692696
23andMers2692696
23andMe allrs2692696
SNP Nexus

SNPshotrs2692696
SNPdbers2692696
MSV3drs2692696
GWAS Ctlgrs2692696
GMAF0.007805
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene TF
allele G
frequency 1
sift TOLERATED
HuRef 1103656233842
Disease Association Defects in TF are the cause of atransferrinemia (MIM:209300). Atransferrinemia is rare autosomal recessive disorder characterized by iron overload and hypochromic anemia.



GET Evidence
TF-I448V
aa_change Ile448Val
aa_change_short I448V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.999442
summary