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rs116840812

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
(GA;GA) 0 common in complete genomics
Make rs116840812(-;-)
Make rs116840812(-;GA)
ReferenceGRCh38 38.1/141
Chromosome15
Position82538940
GeneRPS17, RPS17L
is asnp
is mentioned by
dbSNPrs116840812
ebirs116840812
HLIrs116840812
Exacrs116840812
Varsomers116840812
Maprs116840812
PheGenIrs116840812
hapmaprs116840812
1000 genomesrs116840812
hgdprs116840812
ensemblrs116840812
gopubmedrs116840812
geneviewrs116840812
scholarrs116840812
googlers116840812
pharmgkbrs116840812
gwascentralrs116840812
openSNPrs116840812
23andMers116840812
23andMe allrs116840812
SNP Nexus

SNPshotrs116840812
SNPdbers116840812
MSV3drs116840812
GWAS Ctlgrs116840812
Max Magnitude0
OMIM180472
Desc
Variant0002
Relatedalso
ClinVar
Risk rs116840812(;)
Alt rs116840812(;)
Reference rs116840812(AG;AG)
Significance Pathogenic
Disease Diamond-Blackfan anemia 4
Variation info
Gene RPS17
CLNDBN Diamond-Blackfan anemia 4
Reversed 1
HGVS NC_000015.9:g.82823348_82823349delTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000013874.14,