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rs387906420

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906420(C;C)
Make rs387906420(C;T)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position616
GeneGTF2IRD1
is asnp
is mentioned by
dbSNPrs387906420
ebirs387906420
HLIrs387906420
Exacrs387906420
Varsomers387906420
Maprs387906420
PheGenIrs387906420
hapmaprs387906420
1000 genomesrs387906420
hgdprs387906420
ensemblrs387906420
gopubmedrs387906420
geneviewrs387906420
scholarrs387906420
googlers387906420
pharmgkbrs387906420
gwascentralrs387906420
openSNPrs387906420
23andMers387906420
23andMe allrs387906420
SNP Nexus

SNPshotrs387906420
SNPdbers387906420
MSV3drs387906420
GWAS Ctlgrs387906420
Max Magnitude0
ClinVar
Risk rs387906420(C,G;C,G)
Alt rs387906420(C,G;C,G)
Reference rs387906420(T;T)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene
CLNDBN Epilepsy, mitochondrial
Reversed 0
HGVS NC_012920.1:m.616T>C; NC_012920.1:m.616T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010189.2, RCV000010190.2,