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rs587777569

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777569(A;G)
Make rs587777569(G;G)
ReferenceGRCh38 38.1/142
Chromosome14
Position49585963
GeneRN7SL1, RPS29
is asnp
is mentioned by
dbSNPrs587777569
ebirs587777569
HLIrs587777569
Exacrs587777569
Varsomers587777569
Maprs587777569
PheGenIrs587777569
hapmaprs587777569
1000 genomesrs587777569
hgdprs587777569
ensemblrs587777569
gopubmedrs587777569
geneviewrs587777569
scholarrs587777569
googlers587777569
pharmgkbrs587777569
gwascentralrs587777569
openSNPrs587777569
23andMers587777569
23andMe allrs587777569
SNP Nexus

SNPshotrs587777569
SNPdbers587777569
MSV3drs587777569
GWAS Ctlgrs587777569
Max Magnitude0
ClinVar
Risk rs587777569(G;G)
Alt rs587777569(G;G)
Reference rs587777569(A;A)
Significance Pathogenic
Disease Diamond-Blackfan anemia 13
Variation info
Gene RPS29 RN7SL1
CLNDBN Diamond-Blackfan anemia 13
Reversed 0
HGVS NC_000014.8:g.50052681A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000128851.2,