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rs193303001

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193303001(A;G)
Make rs193303001(G;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeMT
Position15923
is asnp
is mentioned by
dbSNPrs193303001
ebirs193303001
HLIrs193303001
Exacrs193303001
Varsomers193303001
Maprs193303001
PheGenIrs193303001
hapmaprs193303001
1000 genomesrs193303001
hgdprs193303001
ensemblrs193303001
gopubmedrs193303001
geneviewrs193303001
scholarrs193303001
googlers193303001
pharmgkbrs193303001
gwascentralrs193303001
openSNPrs193303001
23andMers193303001
23andMe allrs193303001
SNP Nexus

SNPshotrs193303001
SNPdbers193303001
MSV3drs193303001
GWAS Ctlgrs193303001
Max Magnitude0
ClinVar
Risk rs193303001(G;G)
Alt rs193303001(G;G)
Reference rs193303001(A;A)
Significance Pathogenic
Disease Variant of unknown significance Myoclonus with epilepsy with ragged red fibers
Variation info
Gene
CLNDBN Variant of unknown significance Myoclonus with epilepsy with ragged red fibers
Reversed 0
HGVS NC_012920.1:m.15923A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000032775.2, RCV000192057.1,