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rs199476137

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
(TA;TA) 0 common in clinvar
Make rs199476137(-;-)
Make rs199476137(-;TA)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position9205
GeneMT-ATP6
is asnp
is mentioned by
dbSNPrs199476137
ebirs199476137
HLIrs199476137
Exacrs199476137
Varsomers199476137
Maprs199476137
PheGenIrs199476137
hapmaprs199476137
1000 genomesrs199476137
hgdprs199476137
ensemblrs199476137
gopubmedrs199476137
geneviewrs199476137
scholarrs199476137
googlers199476137
pharmgkbrs199476137
gwascentralrs199476137
openSNPrs199476137
23andMers199476137
23andMe allrs199476137
SNP Nexus

SNPshotrs199476137
SNPdbers199476137
MSV3drs199476137
GWAS Ctlgrs199476137
Max Magnitude0
ClinVar
Risk rs199476137(;)
Alt rs199476137(;)
Reference rs199476137(AT;AT)
Significance Pathogenic
Disease Seizures and lactic acidosis
Variation info
Gene ATP6
CLNDBN Seizures and lactic acidosis
Reversed 0
HGVS NC_012920.1:m.9205_9206delTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000010281.2,