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rs199474672

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(A;A) 0 common in clinvar
Make rs199474672(AG;AG)
Make rs199474672(AG;T)
Make rs199474672(T;T)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position5537
GeneSMR3B
is asnp
is mentioned by
dbSNPrs199474672
ebirs199474672
HLIrs199474672
Exacrs199474672
Varsomers199474672
Maprs199474672
PheGenIrs199474672
hapmaprs199474672
1000 genomesrs199474672
hgdprs199474672
ensemblrs199474672
gopubmedrs199474672
geneviewrs199474672
scholarrs199474672
googlers199474672
pharmgkbrs199474672
gwascentralrs199474672
openSNPrs199474672
23andMers199474672
23andMe allrs199474672
SNP Nexus

SNPshotrs199474672
SNPdbers199474672
MSV3drs199474672
GWAS Ctlgrs199474672
Max Magnitude0
ClinVar
Risk rs199474672(T;T)
Alt rs199474672(T;T)
Reference rs199474672(A;A)
Significance Pathogenic
Disease Encephalopathy Leigh syndrome
Variation info
Gene
CLNDBN Encephalopathy, mitochondrial Leigh syndrome
Reversed 0
HGVS NC_012920.1:m.5537_5538insT
CLNSRC OMIM Allelic Variant
CLNACC RCV000010164.2, RCV000010165.3,