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rs587777568

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777568(A;A)
Make rs587777568(A;T)
ReferenceGRCh38 38.1/142
Chromosome14
Position49586021
GeneRN7SL1, RPS29
is asnp
is mentioned by
dbSNPrs587777568
ebirs587777568
HLIrs587777568
Exacrs587777568
Varsomers587777568
Maprs587777568
PheGenIrs587777568
hapmaprs587777568
1000 genomesrs587777568
hgdprs587777568
ensemblrs587777568
gopubmedrs587777568
geneviewrs587777568
scholarrs587777568
googlers587777568
pharmgkbrs587777568
gwascentralrs587777568
openSNPrs587777568
23andMers587777568
23andMe allrs587777568
SNP Nexus

SNPshotrs587777568
SNPdbers587777568
MSV3drs587777568
GWAS Ctlgrs587777568
Max Magnitude0
ClinVar
Risk rs587777568(A;A)
Alt rs587777568(A;A)
Reference rs587777568(T;T)
Significance Pathogenic
Disease Diamond-Blackfan anemia 13
Variation info
Gene RPS29 RN7SL1
CLNDBN Diamond-Blackfan anemia 13
Reversed 0
HGVS NC_000014.8:g.50052739T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000128850.2,