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rs104894716

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894716(A;A)
Make rs104894716(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position41861138
GeneRPS19
is asnp
is mentioned by
dbSNPrs104894716
ebirs104894716
HLIrs104894716
Exacrs104894716
Varsomers104894716
Maprs104894716
PheGenIrs104894716
hapmaprs104894716
1000 genomesrs104894716
hgdprs104894716
ensemblrs104894716
gopubmedrs104894716
geneviewrs104894716
scholarrs104894716
googlers104894716
pharmgkbrs104894716
gwascentralrs104894716
openSNPrs104894716
23andMers104894716
23andMe allrs104894716
SNP Nexus

SNPshotrs104894716
SNPdbers104894716
MSV3drs104894716
GWAS Ctlgrs104894716
Max Magnitude0
OMIM603474
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894716(A;A)
Alt rs104894716(A;A)
Reference rs104894716(G;G)
Significance Pathogenic
Disease Diamond-Blackfan anemia 1
Variation info
Gene RPS19
CLNDBN Diamond-Blackfan anemia 1
Reversed 0
HGVS NC_000019.9:g.42365207G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033184.3,