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rs752298579

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs752298579(A;A)
Make rs752298579(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position20061538
GeneTANGO2
is asnp
is mentioned by
dbSNPrs752298579
ebirs752298579
HLIrs752298579
Exacrs752298579
Varsomers752298579
Maprs752298579
PheGenIrs752298579
hapmaprs752298579
1000 genomesrs752298579
hgdprs752298579
ensemblrs752298579
gopubmedrs752298579
geneviewrs752298579
scholarrs752298579
googlers752298579
pharmgkbrs752298579
gwascentralrs752298579
openSNPrs752298579
23andMers752298579
23andMe allrs752298579
SNP Nexus

SNPshotrs752298579
SNPdbers752298579
MSV3drs752298579
GWAS Ctlgrs752298579
Max Magnitude0
ClinVar
Risk rs752298579(A;A)
Alt rs752298579(A;A)
Reference rs752298579(G;G)
Significance Pathogenic
Disease Acute rhabdomyolysis Cardiac arrhythmia Episodic flaccid weakness Intellectual functioning disability Seizures Metabolic encephalomyopathic crises
Variation info
Gene TANGO2
CLNDBN Acute rhabdomyolysis Cardiac arrhythmia Episodic flaccid weakness Intellectual functioning disability Seizures Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
Reversed 0
HGVS NC_000022.10:g.20049061G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000210033.1, RCV000210337.1,