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rs116840810

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs116840810(A;G)
Make rs116840810(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position3576488
GeneRPS7
is asnp
is mentioned by
dbSNPrs116840810
dbSNP (classic)rs116840810
ClinGenrs116840810
ebirs116840810
HLIrs116840810
Exacrs116840810
Gnomadrs116840810
Varsomers116840810
LitVarrs116840810
Maprs116840810
PheGenIrs116840810
Biobankrs116840810
1000 genomesrs116840810
hgdprs116840810
ensemblrs116840810
geneviewrs116840810
scholarrs116840810
googlers116840810
pharmgkbrs116840810
gwascentralrs116840810
openSNPrs116840810
23andMers116840810
SNPshotrs116840810
SNPdbers116840810
MSV3drs116840810
GWAS Ctlgrs116840810
Max Magnitude0
OMIM603658
Desc
Variant0001
Relatedalso
ClinVar
Risk rs116840810(G;G)
Alt rs116840810(G;G)
Reference Rs116840810(A;A)
Significance Pathogenic
Disease Diamond-Blackfan anemia 8
Variation info
Gene RPS7
CLNDBN Diamond-Blackfan anemia 8
Reversed 0
HGVS NC_000002.11:g.3624078A>G
CLNSRC OMIM Allelic Variant
CLNACC SCV000026708.1,