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rs121918334

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918334(C;T)
Make rs121918334(T;T)
ReferenceGRCh37 37.1/132
Chromosome11
Position792429
GeneSLC25A22
is asnp
is mentioned by
dbSNPrs121918334
ebirs121918334
HLIrs121918334
Exacrs121918334
Varsomers121918334
Maprs121918334
PheGenIrs121918334
hapmaprs121918334
1000 genomesrs121918334
hgdprs121918334
ensemblrs121918334
gopubmedrs121918334
geneviewrs121918334
scholarrs121918334
googlers121918334
pharmgkbrs121918334
gwascentralrs121918334
openSNPrs121918334
23andMers121918334
23andMe allrs121918334
SNP Nexus

SNPshotrs121918334
SNPdbers121918334
MSV3drs121918334
GWAS Ctlgrs121918334
Max Magnitude0
OMIM609302
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918334(T;T)
Alt rs121918334(T;T)
Reference rs121918334(C;C)
Significance Pathogenic
Disease Early myoclonic encephalopathy
Variation info
Gene SLC25A22
CLNDBN Early myoclonic encephalopathy
Reversed 1
HGVS NC_000011.9:g.792429G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001847.3,