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rs786203998

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786203998(A;T)
Make rs786203998(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position56042423
GeneLOC105369780, RPS26
is asnp
is mentioned by
dbSNPrs786203998
ebirs786203998
HLIrs786203998
Exacrs786203998
Varsomers786203998
Maprs786203998
PheGenIrs786203998
hapmaprs786203998
1000 genomesrs786203998
hgdprs786203998
ensemblrs786203998
gopubmedrs786203998
geneviewrs786203998
scholarrs786203998
googlers786203998
pharmgkbrs786203998
gwascentralrs786203998
openSNPrs786203998
23andMers786203998
23andMe allrs786203998
SNP Nexus

SNPshotrs786203998
SNPdbers786203998
MSV3drs786203998
GWAS Ctlgrs786203998
Max Magnitude0
ClinVar
Risk rs786203998(T;T)
Alt rs786203998(T;T)
Reference rs786203998(A;A)
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.56436207A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000167575.3, RCV000191913.1,