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rs121918679

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;G) 1 unaffected carrier of a transferrin atransferrinemia allele
(G;G) 0 common in clinvar


Make rs121918679(C;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position133766376
GeneTF
is asnp
is mentioned by
dbSNPrs121918679
ebirs121918679
HLIrs121918679
Exacrs121918679
Varsomers121918679
Maprs121918679
PheGenIrs121918679
hapmaprs121918679
1000 genomesrs121918679
hgdprs121918679
ensemblrs121918679
gopubmedrs121918679
geneviewrs121918679
scholarrs121918679
googlers121918679
pharmgkbrs121918679
gwascentralrs121918679
openSNPrs121918679
23andMers121918679
23andMe allrs121918679
SNP Nexus

SNPshotrs121918679
SNPdbers121918679
MSV3drs121918679
GWAS Ctlgrs121918679
Max Magnitude1
OMIM190000
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121918679(A,C;A,C)
Alt rs121918679(A,C;A,C)
Reference rs121918679(G;G)
Significance Pathogenic
Disease Atransferrinemia
Variation info
Gene TF
CLNDBN Atransferrinemia
Reversed 0
HGVS NC_000003.11:g.133485220G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013455.23,