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rs200911567

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs200911567(C;C)
Make rs200911567(C;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position11984
GeneND4
is asnp
is mentioned by
dbSNPrs200911567
dbSNP (classic)rs200911567
ClinGenrs200911567
ebirs200911567
HLIrs200911567
Exacrs200911567
Gnomadrs200911567
Varsomers200911567
LitVarrs200911567
Maprs200911567
PheGenIrs200911567
Biobankrs200911567
1000 genomesrs200911567
hgdprs200911567
ensemblrs200911567
geneviewrs200911567
scholarrs200911567
googlers200911567
pharmgkbrs200911567
gwascentralrs200911567
openSNPrs200911567
23andMers200911567
SNPshotrs200911567
SNPdbers200911567
MSV3drs200911567
GWAS Ctlgrs200911567
Merged fromRs587776439
Max Magnitude0
ClinVar
Risk rs200911567(C;C)
Alt rs200911567(C;C)
Reference Rs200911567(T;T)
Significance Pathogenic
Disease Leigh syndrome
Variation info
Gene ND4
CLNDBN Leigh syndrome
Reversed 0
HGVS NC_012920.1:m.11984T>C
CLNSRC
CLNACC RCV000144014.2,