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rs797044543

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797044543(A;G)
Make rs797044543(G;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeMT
Position4279
is asnp
is mentioned by
dbSNPrs797044543
ebirs797044543
HLIrs797044543
Exacrs797044543
Varsomers797044543
Maprs797044543
PheGenIrs797044543
hapmaprs797044543
1000 genomesrs797044543
hgdprs797044543
ensemblrs797044543
gopubmedrs797044543
geneviewrs797044543
scholarrs797044543
googlers797044543
pharmgkbrs797044543
gwascentralrs797044543
openSNPrs797044543
23andMers797044543
23andMe allrs797044543
SNP Nexus

SNPshotrs797044543
SNPdbers797044543
MSV3drs797044543
GWAS Ctlgrs797044543
Max Magnitude0
ClinVar
Risk rs797044543(G;G)
Alt rs797044543(G;G)
Reference rs797044543(A;A)
Significance Pathogenic
Disease Myoclonus with epilepsy with ragged red fibers
Variation info
Gene
CLNDBN Myoclonus with epilepsy with ragged red fibers
Reversed 0
HGVS NC_012920.1:m.4279A>G
CLNSRC
CLNACC RCV000192055.1,