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rs116840807

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTT;CTT) 0 common in clinvar
(TCT;TCT) 0 common in clinvar
Make rs116840807(-;-)
Make rs116840807(-;CTT)
ReferenceGRCh38 38.1/141
Chromosome3
Position197951229
GeneIQCG, RPL35A
is asnp
is mentioned by
dbSNPrs116840807
ebirs116840807
HLIrs116840807
Exacrs116840807
Varsomers116840807
Maprs116840807
PheGenIrs116840807
hapmaprs116840807
1000 genomesrs116840807
hgdprs116840807
ensemblrs116840807
gopubmedrs116840807
geneviewrs116840807
scholarrs116840807
googlers116840807
pharmgkbrs116840807
gwascentralrs116840807
openSNPrs116840807
23andMers116840807
23andMe allrs116840807
SNP Nexus

SNPshotrs116840807
SNPdbers116840807
MSV3drs116840807
GWAS Ctlgrs116840807
Max Magnitude0
OMIM180468
Desc
Variant0002
Relatedalso
ClinVar
Risk rs116840807(;)
Alt rs116840807(;)
Reference rs116840807(TCT;TCT)
Significance Pathogenic
Disease Diamond-Blackfan anemia 5
Variation info
Gene IQCG RPL35A
CLNDBN Diamond-Blackfan anemia 5
Reversed 0
HGVS NC_000003.11:g.197678100_197678102delCTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000013876.25,