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rs121918681

From SNPedia

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


Make rs121918681(A;A)
ReferenceGRCh38 38.1/141
Chromosome3
Position133753607
GeneTF
is asnp
is mentioned by
dbSNPrs121918681
ebirs121918681
HLIrs121918681
Exacrs121918681
Varsomers121918681
Maprs121918681
PheGenIrs121918681
hapmaprs121918681
1000 genomesrs121918681
hgdprs121918681
ensemblrs121918681
gopubmedrs121918681
geneviewrs121918681
scholarrs121918681
googlers121918681
pharmgkbrs121918681
gwascentralrs121918681
openSNPrs121918681
23andMers121918681
23andMe allrs121918681
SNP Nexus

SNPshotrs121918681
SNPdbers121918681
MSV3drs121918681
GWAS Ctlgrs121918681
Max Magnitude1
OMIM190000
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121918681(A;A)
Alt rs121918681(A;A)
Reference rs121918681(G;G)
Significance Pathogenic
Disease Atransferrinemia
Variation info
Gene TF
CLNDBN Atransferrinemia
Reversed 0
HGVS NC_000003.11:g.133472451G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013456.25,