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rs606231426

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs606231426(A;A)
Make rs606231426(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position62671804
GeneLBHD1, UQCC3
is asnp
is mentioned by
dbSNPrs606231426
dbSNP (classic)rs606231426
ClinGenrs606231426
ebirs606231426
HLIrs606231426
Exacrs606231426
Gnomadrs606231426
Varsomers606231426
LitVarrs606231426
Maprs606231426
PheGenIrs606231426
Biobankrs606231426
1000 genomesrs606231426
hgdprs606231426
ensemblrs606231426
geneviewrs606231426
scholarrs606231426
googlers606231426
pharmgkbrs606231426
gwascentralrs606231426
openSNPrs606231426
23andMers606231426
SNPshotrs606231426
SNPdbers606231426
MSV3drs606231426
GWAS Ctlgrs606231426
Max Magnitude0
ClinVar
Risk rs606231426(A;A)
Alt rs606231426(A;A)
Reference Rs606231426(T;T)
Significance Pathogenic
Disease Mitochondrial complex III deficiency
Variation info
Gene UQCC3 LBHD1
CLNDBN Mitochondrial complex III deficiency, nuclear type 9
Reversed 0
HGVS NC_000011.9:g.62439276T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000148301.2,