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rs116840811

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs116840811(G;G)
Make rs116840811(G;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position82540427
GeneRPS17, RPS17L
is asnp
is mentioned by
dbSNPrs116840811
ebirs116840811
HLIrs116840811
Exacrs116840811
Varsomers116840811
Maprs116840811
PheGenIrs116840811
hapmaprs116840811
1000 genomesrs116840811
hgdprs116840811
ensemblrs116840811
gopubmedrs116840811
geneviewrs116840811
scholarrs116840811
googlers116840811
pharmgkbrs116840811
gwascentralrs116840811
openSNPrs116840811
23andMers116840811
23andMe allrs116840811
SNP Nexus

SNPshotrs116840811
SNPdbers116840811
MSV3drs116840811
GWAS Ctlgrs116840811
Max Magnitude0
OMIM180472
Desc
Variant0001
Relatedalso
ClinVar
Risk rs116840811(G;G)
Alt rs116840811(G;G)
Reference rs116840811(T;T)
Significance Pathogenic
Disease Diamond-Blackfan anemia 4
Variation info
Gene RPS17
CLNDBN Diamond-Blackfan anemia 4
Reversed 1
HGVS NC_000015.9:g.82824835A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013873.10,