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rs199476144

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199476144(C;T)
Make rs199476144(T;T)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position1624
GeneUGT1A12P
is asnp
is mentioned by
dbSNPrs199476144
ebirs199476144
HLIrs199476144
Exacrs199476144
Varsomers199476144
Maprs199476144
PheGenIrs199476144
hapmaprs199476144
1000 genomesrs199476144
hgdprs199476144
ensemblrs199476144
gopubmedrs199476144
geneviewrs199476144
scholarrs199476144
googlers199476144
pharmgkbrs199476144
gwascentralrs199476144
openSNPrs199476144
23andMers199476144
23andMe allrs199476144
SNP Nexus

SNPshotrs199476144
SNPdbers199476144
MSV3drs199476144
GWAS Ctlgrs199476144
Max Magnitude0
ClinVar
Risk rs199476144(T;T)
Alt rs199476144(T;T)
Reference rs199476144(C;C)
Significance Pathogenic
Disease Neonatal death Leigh syndrome
Variation info
Gene
CLNDBN Neonatal death Leigh syndrome
Reversed 0
HGVS NC_012920.1:m.1624C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010157.4, RCV000010158.3,