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rs587777119

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs587777119(-;-)
Make rs587777119(-;AA)
ReferenceGRCh38 38.1/142
Chromosome1
Position23695877
GeneRPL11
is asnp
is mentioned by
dbSNPrs587777119
ebirs587777119
HLIrs587777119
Exacrs587777119
Varsomers587777119
Maprs587777119
PheGenIrs587777119
hapmaprs587777119
1000 genomesrs587777119
hgdprs587777119
ensemblrs587777119
gopubmedrs587777119
geneviewrs587777119
scholarrs587777119
googlers587777119
pharmgkbrs587777119
gwascentralrs587777119
openSNPrs587777119
23andMers587777119
23andMe allrs587777119
SNP Nexus

SNPshotrs587777119
SNPdbers587777119
MSV3drs587777119
GWAS Ctlgrs587777119
Max Magnitude0
ClinVar
Risk rs587777119(;)
Alt rs587777119(;)
Reference rs587777119(AA;AA)
Significance Pathogenic
Disease Diamond-Blackfan anemia 7
Variation info
Gene RPL11
CLNDBN Diamond-Blackfan anemia 7
Reversed 0
HGVS NC_000001.10:g.24022367_24022368delAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000087040.3,