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rs116840808

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs116840808(A;A)
Make rs116840808(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position197951244
GeneIQCG, RPL35A
is asnp
is mentioned by
dbSNPrs116840808
ebirs116840808
HLIrs116840808
Exacrs116840808
Varsomers116840808
Maprs116840808
PheGenIrs116840808
hapmaprs116840808
1000 genomesrs116840808
hgdprs116840808
ensemblrs116840808
gopubmedrs116840808
geneviewrs116840808
scholarrs116840808
googlers116840808
pharmgkbrs116840808
gwascentralrs116840808
openSNPrs116840808
23andMers116840808
23andMe allrs116840808
SNP Nexus

SNPshotrs116840808
SNPdbers116840808
MSV3drs116840808
GWAS Ctlgrs116840808
Max Magnitude0
OMIM180468
Desc
Variant0001
Relatedalso
ClinVar
Risk rs116840808(A;A)
Alt rs116840808(A;A)
Reference rs116840808(G;G)
Significance Pathogenic
Disease Diamond-Blackfan anemia 5
Variation info
Gene IQCG RPL35A
CLNDBN Diamond-Blackfan anemia 5
Reversed 0
HGVS NC_000003.11:g.197678115G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013875.19,