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rs121434405

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434405(C;T)
Make rs121434405(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position92833452
GeneFAM69A, RPL5
is asnp
is mentioned by
dbSNPrs121434405
dbSNP (classic)rs121434405
ClinGenrs121434405
ebirs121434405
HLIrs121434405
Exacrs121434405
Gnomadrs121434405
Varsomers121434405
LitVarrs121434405
Maprs121434405
PheGenIrs121434405
Biobankrs121434405
1000 genomesrs121434405
hgdprs121434405
ensemblrs121434405
geneviewrs121434405
scholarrs121434405
googlers121434405
pharmgkbrs121434405
gwascentralrs121434405
openSNPrs121434405
23andMers121434405
SNPshotrs121434405
SNPdbers121434405
MSV3drs121434405
GWAS Ctlgrs121434405
Max Magnitude0
OMIM603634
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434405(T;T)
Alt rs121434405(T;T)
Reference Rs121434405(C;C)
Significance Pathogenic
Disease Aase syndrome
Variation info
Gene RPL5 FAM69A
CLNDBN Aase syndrome
Reversed 0
HGVS NC_000001.10:g.93299009C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006556.2,