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rs104894717

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894717(G;T)
Make rs104894717(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position41860817
GeneRPS19
is asnp
is mentioned by
dbSNPrs104894717
ebirs104894717
HLIrs104894717
Exacrs104894717
Varsomers104894717
Maprs104894717
PheGenIrs104894717
hapmaprs104894717
1000 genomesrs104894717
hgdprs104894717
ensemblrs104894717
gopubmedrs104894717
geneviewrs104894717
scholarrs104894717
googlers104894717
pharmgkbrs104894717
gwascentralrs104894717
openSNPrs104894717
23andMers104894717
23andMe allrs104894717
SNP Nexus

SNPshotrs104894717
SNPdbers104894717
MSV3drs104894717
GWAS Ctlgrs104894717
Max Magnitude0
OMIM603474
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894717(A,T;A,T)
Alt rs104894717(A,T;A,T)
Reference rs104894717(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.42364887G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033188.4,