Have questions? Visit https://www.reddit.com/r/SNPedia

rs587777120

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777120(-;-)
Make rs587777120(-;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position23693853
GeneRPL11
is asnp
is mentioned by
dbSNPrs587777120
ebirs587777120
HLIrs587777120
Exacrs587777120
Varsomers587777120
Maprs587777120
PheGenIrs587777120
hapmaprs587777120
1000 genomesrs587777120
hgdprs587777120
ensemblrs587777120
gopubmedrs587777120
geneviewrs587777120
scholarrs587777120
googlers587777120
pharmgkbrs587777120
gwascentralrs587777120
openSNPrs587777120
23andMers587777120
23andMe allrs587777120
SNP Nexus

SNPshotrs587777120
SNPdbers587777120
MSV3drs587777120
GWAS Ctlgrs587777120
Max Magnitude0
ClinVar
Risk rs587777120(;)
Alt rs587777120(;)
Reference rs587777120(T;T)
Significance Pathogenic
Disease Diamond-Blackfan anemia 7
Variation info
Gene RPL11
CLNDBN Diamond-Blackfan anemia 7
Reversed 0
HGVS NC_000001.10:g.24020343delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000087041.3,