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rs116840806

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAC;AAC) 0 common in clinvar
Make rs116840806(AAC;TACGGATAG)
Make rs116840806(TACGGATAG;TACGGATAG)
ReferenceGRCh38 38.1/141
Chromosome10
Position78035352
GeneRPS24
is asnp
is mentioned by
dbSNPrs116840806
ebirs116840806
HLIrs116840806
Exacrs116840806
Varsomers116840806
Maprs116840806
PheGenIrs116840806
hapmaprs116840806
1000 genomesrs116840806
hgdprs116840806
ensemblrs116840806
gopubmedrs116840806
geneviewrs116840806
scholarrs116840806
googlers116840806
pharmgkbrs116840806
gwascentralrs116840806
openSNPrs116840806
23andMers116840806
23andMe allrs116840806
SNP Nexus

SNPshotrs116840806
SNPdbers116840806
MSV3drs116840806
GWAS Ctlgrs116840806
Max Magnitude0
OMIM602412
Desc
Variant0003
Relatedalso
ClinVar
Risk rs116840806(TACGGATAG;TACGGATAG)
Alt rs116840806(TACGGATAG;TACGGATAG)
Reference rs116840806(AAC;AAC)
Significance Pathogenic
Disease Diamond-Blackfan anemia 3
Variation info
Gene RPS24
CLNDBN Diamond-Blackfan anemia 3
Reversed 0
HGVS NC_000010.10:g.79795110_79795112delAACinsTACGGATAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000007669.3,