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rs869320693

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869320693(-;-)
Make rs869320693(-;T)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position20036802
GeneTANGO2
is asnp
is mentioned by
dbSNPrs869320693
dbSNP (classic)rs869320693
ClinGenrs869320693
ebirs869320693
HLIrs869320693
Exacrs869320693
Gnomadrs869320693
Varsomers869320693
LitVarrs869320693
Maprs869320693
PheGenIrs869320693
Biobankrs869320693
1000 genomesrs869320693
hgdprs869320693
ensemblrs869320693
geneviewrs869320693
scholarrs869320693
googlers869320693
pharmgkbrs869320693
gwascentralrs869320693
openSNPrs869320693
23andMers869320693
SNPshotrs869320693
SNPdbers869320693
MSV3drs869320693
GWAS Ctlgrs869320693
Max Magnitude0
ClinVar
Risk rs869320693(-;-)
Alt rs869320693(-;-)
Reference Rs869320693(T;T)
Significance Pathogenic
Disease Metabolic encephalomyopathic crises
Variation info
Gene TANGO2
CLNDBN Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
Reversed 0
HGVS NC_000022.10:g.20024325delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000210340.2,