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rs121918335

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918335(G;T)
Make rs121918335(T;T)
ReferenceGRCh37 37.1/132
Chromosome11
Position792340
GeneSLC25A22
is asnp
is mentioned by
dbSNPrs121918335
ebirs121918335
HLIrs121918335
Exacrs121918335
Varsomers121918335
Maprs121918335
PheGenIrs121918335
hapmaprs121918335
1000 genomesrs121918335
hgdprs121918335
ensemblrs121918335
gopubmedrs121918335
geneviewrs121918335
scholarrs121918335
googlers121918335
pharmgkbrs121918335
gwascentralrs121918335
openSNPrs121918335
23andMers121918335
23andMe allrs121918335
SNP Nexus

SNPshotrs121918335
SNPdbers121918335
MSV3drs121918335
GWAS Ctlgrs121918335
Max Magnitude0
OMIM609302
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918335(T;T)
Alt rs121918335(T;T)
Reference rs121918335(G;G)
Significance Pathogenic
Disease Early myoclonic encephalopathy
Variation info
Gene SLC25A22
CLNDBN Early myoclonic encephalopathy
Reversed 1
HGVS NC_000011.9:g.792340C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001848.3,