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rs143951267

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs143951267(A;G)
Make rs143951267(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position56042167
GeneRPS26
is asnp
is mentioned by
dbSNPrs143951267
ebirs143951267
HLIrs143951267
Exacrs143951267
Varsomers143951267
Maprs143951267
PheGenIrs143951267
hapmaprs143951267
1000 genomesrs143951267
hgdprs143951267
ensemblrs143951267
gopubmedrs143951267
geneviewrs143951267
scholarrs143951267
googlers143951267
pharmgkbrs143951267
gwascentralrs143951267
openSNPrs143951267
23andMers143951267
23andMe allrs143951267
SNP Nexus

SNPshotrs143951267
SNPdbers143951267
MSV3drs143951267
GWAS Ctlgrs143951267
Max Magnitude0
ClinVar
Risk rs143951267(G,T;G,T)
Alt rs143951267(G,T;G,T)
Reference rs143951267(A;A)
Significance Pathogenic
Disease Diamond-Blackfan anemia 10
Variation info
Gene RPS26
CLNDBN Diamond-Blackfan anemia 10
Reversed 0
HGVS NC_000012.11:g.56435951A>G; NC_000012.11:g.56435951A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006496.3, RCV000006497.4,