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rs374661051

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs374661051(A;A)
Make rs374661051(A;C)
ReferenceGRCh38 38.1/142
Chromosome16
Position21965440
GeneUQCRC2
is asnp
is mentioned by
dbSNPrs374661051
ebirs374661051
HLIrs374661051
Exacrs374661051
Varsomers374661051
Maprs374661051
PheGenIrs374661051
hapmaprs374661051
1000 genomesrs374661051
hgdprs374661051
ensemblrs374661051
gopubmedrs374661051
geneviewrs374661051
scholarrs374661051
googlers374661051
pharmgkbrs374661051
gwascentralrs374661051
openSNPrs374661051
23andMers374661051
23andMe allrs374661051
SNP Nexus

SNPshotrs374661051
SNPdbers374661051
MSV3drs374661051
GWAS Ctlgrs374661051
Max Magnitude0
ClinVar
Risk rs374661051(A,T;A,T)
Alt rs374661051(A,T;A,T)
Reference rs374661051(C;C)
Significance Pathogenic
Disease Mitochondrial complex III deficiency
Variation info
Gene UQCRC2
CLNDBN Mitochondrial complex III deficiency, nuclear type 5
Reversed 0
HGVS NC_000016.9:g.21976761C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000034810.25,