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rs104894711

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894711(C;T)
Make rs104894711(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position41869042
GeneMIR6797, RPS19
is asnp
is mentioned by
dbSNPrs104894711
ebirs104894711
HLIrs104894711
Exacrs104894711
Varsomers104894711
Maprs104894711
PheGenIrs104894711
hapmaprs104894711
1000 genomesrs104894711
hgdprs104894711
ensemblrs104894711
gopubmedrs104894711
geneviewrs104894711
scholarrs104894711
googlers104894711
pharmgkbrs104894711
gwascentralrs104894711
openSNPrs104894711
23andMers104894711
23andMe allrs104894711
SNP Nexus

SNPshotrs104894711
SNPdbers104894711
MSV3drs104894711
GWAS Ctlgrs104894711
Max Magnitude0
OMIM603474
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894711(T;T)
Alt rs104894711(T;T)
Reference rs104894711(C;C)
Significance Pathogenic
Disease Diamond-Blackfan anemia 1
Variation info
Gene MIR6797 RPS19
CLNDBN Diamond-Blackfan anemia 1
Reversed 0
HGVS NC_000019.9:g.42373112C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033183.3,