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rs372949028

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs372949028(A;A)
Make rs372949028(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position20061684
GeneTANGO2
is asnp
is mentioned by
dbSNPrs372949028
ebirs372949028
HLIrs372949028
Exacrs372949028
Varsomers372949028
Maprs372949028
PheGenIrs372949028
hapmaprs372949028
1000 genomesrs372949028
hgdprs372949028
ensemblrs372949028
gopubmedrs372949028
geneviewrs372949028
scholarrs372949028
googlers372949028
pharmgkbrs372949028
gwascentralrs372949028
openSNPrs372949028
23andMers372949028
23andMe allrs372949028
SNP Nexus

SNPshotrs372949028
SNPdbers372949028
MSV3drs372949028
GWAS Ctlgrs372949028
Max Magnitude0
ClinVar
Risk rs372949028(A;A)
Alt rs372949028(A;A)
Reference rs372949028(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.20049207G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000210035.1, RCV000210343.1,