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rs148942765

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs148942765(C;T)
Make rs148942765(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position56043440
GeneLOC105369780, RPS26
is asnp
is mentioned by
dbSNPrs148942765
ebirs148942765
HLIrs148942765
Exacrs148942765
Varsomers148942765
Maprs148942765
PheGenIrs148942765
hapmaprs148942765
1000 genomesrs148942765
hgdprs148942765
ensemblrs148942765
gopubmedrs148942765
geneviewrs148942765
scholarrs148942765
googlers148942765
pharmgkbrs148942765
gwascentralrs148942765
openSNPrs148942765
23andMers148942765
23andMe allrs148942765
SNP Nexus

SNPshotrs148942765
SNPdbers148942765
MSV3drs148942765
GWAS Ctlgrs148942765
Max Magnitude0
ClinVar
Risk rs148942765(A,T;A,T)
Alt rs148942765(A,T;A,T)
Reference rs148942765(C;C)
Significance Pathogenic
Disease Diamond-Blackfan anemia 10 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
Variation info
Gene RPS26
CLNDBN Diamond-Blackfan anemia 10 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
Reversed 0
HGVS NC_000012.11:g.56437224C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000167574.3, RCV000191914.1,