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rs121434389

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434389(C;T)
Make rs121434389(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position23693872
GeneRPL11
is asnp
is mentioned by
dbSNPrs121434389
ebirs121434389
HLIrs121434389
Exacrs121434389
Varsomers121434389
Maprs121434389
PheGenIrs121434389
hapmaprs121434389
1000 genomesrs121434389
hgdprs121434389
ensemblrs121434389
gopubmedrs121434389
geneviewrs121434389
scholarrs121434389
googlers121434389
pharmgkbrs121434389
gwascentralrs121434389
openSNPrs121434389
23andMers121434389
23andMe allrs121434389
SNP Nexus

SNPshotrs121434389
SNPdbers121434389
MSV3drs121434389
GWAS Ctlgrs121434389
Max Magnitude0
OMIM604175
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434389(T;T)
Alt rs121434389(T;T)
Reference rs121434389(C;C)
Significance Pathogenic
Disease Diamond-Blackfan anemia 7
Variation info
Gene RPL11
CLNDBN Diamond-Blackfan anemia 7
Reversed 0
HGVS NC_000001.10:g.24020362C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006107.2,