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rs147508369

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs147508369(C;T)
Make rs147508369(T;T)
ReferenceGRCh38 38.1/142
Chromosome19
Position41861204
GeneRPS19
is asnp
is mentioned by
dbSNPrs147508369
ebirs147508369
HLIrs147508369
Exacrs147508369
Varsomers147508369
Maprs147508369
PheGenIrs147508369
hapmaprs147508369
1000 genomesrs147508369
hgdprs147508369
ensemblrs147508369
gopubmedrs147508369
geneviewrs147508369
scholarrs147508369
googlers147508369
pharmgkbrs147508369
gwascentralrs147508369
openSNPrs147508369
23andMers147508369
23andMe allrs147508369
SNP Nexus

SNPshotrs147508369
SNPdbers147508369
MSV3drs147508369
GWAS Ctlgrs147508369
Max Magnitude0
ClinVar
Risk rs147508369(T;T)
Alt rs147508369(T;T)
Reference rs147508369(C;C)
Significance Pathogenic
Disease Diamond-Blackfan anemia 1
Variation info
Gene RPS19
CLNDBN Diamond-Blackfan anemia 1
Reversed 0
HGVS NC_000019.9:g.42365273C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033188.4,