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rs121918680

From SNPedia

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


Make rs121918680(A;A)
ReferenceGRCh38 38.1/141
Chromosome3
Position133759306
GeneTF
is asnp
is mentioned by
dbSNPrs121918680
ebirs121918680
HLIrs121918680
Exacrs121918680
Varsomers121918680
Maprs121918680
PheGenIrs121918680
hapmaprs121918680
1000 genomesrs121918680
hgdprs121918680
ensemblrs121918680
gopubmedrs121918680
geneviewrs121918680
scholarrs121918680
googlers121918680
pharmgkbrs121918680
gwascentralrs121918680
openSNPrs121918680
23andMers121918680
23andMe allrs121918680
SNP Nexus

SNPshotrs121918680
SNPdbers121918680
MSV3drs121918680
GWAS Ctlgrs121918680
Max Magnitude1
OMIM190000
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121918680(A;A)
Alt rs121918680(A;A)
Reference rs121918680(G;G)
Significance Pathogenic
Disease Atransferrinemia
Variation info
Gene TF
CLNDBN Atransferrinemia
Reversed 0
HGVS NC_000003.11:g.133478150G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013458.17,