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rs797045969

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045969(C;T)
Make rs797045969(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position792722
GeneSLC25A22
is asnp
is mentioned by
dbSNPrs797045969
dbSNP (classic)rs797045969
ClinGenrs797045969
ebirs797045969
HLIrs797045969
Exacrs797045969
Gnomadrs797045969
Varsomers797045969
LitVarrs797045969
Maprs797045969
PheGenIrs797045969
Biobankrs797045969
1000 genomesrs797045969
hgdprs797045969
ensemblrs797045969
geneviewrs797045969
scholarrs797045969
googlers797045969
pharmgkbrs797045969
gwascentralrs797045969
openSNPrs797045969
23andMers797045969
SNPshotrs797045969
SNPdbers797045969
MSV3drs797045969
GWAS Ctlgrs797045969
Max Magnitude0
ClinVar
Risk rs797045969(T;T)
Alt rs797045969(T;T)
Reference Rs797045969(C;C)
Significance Pathogenic
Disease Early myoclonic encephalopathy
Variation info
Gene SLC25A22
CLNDBN Early myoclonic encephalopathy
Reversed 1
HGVS NC_000011.9:g.792722G>A
CLNSRC
CLNACC RCV000194231.1,