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rs387906734

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906734(A;A)
Make rs387906734(A;G)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position586
GeneGTF2IRD1
is asnp
is mentioned by
dbSNPrs387906734
ClinGenrs387906734
ebirs387906734
HLIrs387906734
Exacrs387906734
Varsomers387906734
Maprs387906734
PheGenIrs387906734
hapmaprs387906734
1000 genomesrs387906734
hgdprs387906734
ensemblrs387906734
gopubmedrs387906734
geneviewrs387906734
scholarrs387906734
googlers387906734
pharmgkbrs387906734
gwascentralrs387906734
openSNPrs387906734
23andMers387906734
23andMe allrs387906734
SNP Nexus

SNPshotrs387906734
SNPdbers387906734
MSV3drs387906734
GWAS Ctlgrs387906734
Max Magnitude0
ClinVar
Risk rs387906734(A;A)
Alt rs387906734(A;A)
Reference Rs387906734(G;G)
Significance Pathogenic
Disease Encephalopathy
Variation info
Gene
CLNDBN Encephalopathy, mitochondrial
Reversed 0
HGVS NC_012920.1:m.586G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022903.2,