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rs116840809

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs116840809(C;T)
Make rs116840809(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position197954142
GeneIQCG, RPL35A
is asnp
is mentioned by
dbSNPrs116840809
ebirs116840809
HLIrs116840809
Exacrs116840809
Varsomers116840809
Maprs116840809
PheGenIrs116840809
hapmaprs116840809
1000 genomesrs116840809
hgdprs116840809
ensemblrs116840809
gopubmedrs116840809
geneviewrs116840809
scholarrs116840809
googlers116840809
pharmgkbrs116840809
gwascentralrs116840809
openSNPrs116840809
23andMers116840809
23andMe allrs116840809
SNP Nexus

SNPshotrs116840809
SNPdbers116840809
MSV3drs116840809
GWAS Ctlgrs116840809
Max Magnitude0
OMIM180468
Desc
Variant0003
Relatedalso
ClinVar
Risk rs116840809(T;T)
Alt rs116840809(T;T)
Reference rs116840809(C;C)
Significance Pathogenic
Disease Diamond-Blackfan anemia 5
Variation info
Gene IQCG RPL35A
CLNDBN Diamond-Blackfan anemia 5
Reversed 0
HGVS NC_000003.11:g.197681013C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013877.26,