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rs786205871

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205871(C;C)
Make rs786205871(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position84459170
GeneDNAH6, SUCLG1
is asnp
is mentioned by
dbSNPrs786205871
dbSNP (old)rs786205871
ClinGenrs786205871
ebirs786205871
HLIrs786205871
Exacrs786205871
Gnomadrs786205871
Varsomers786205871
Maprs786205871
PheGenIrs786205871
Biobankrs786205871
1000 genomesrs786205871
hgdprs786205871
ensemblrs786205871
gopubmedrs786205871
geneviewrs786205871
scholarrs786205871
googlers786205871
pharmgkbrs786205871
gwascentralrs786205871
openSNPrs786205871
23andMers786205871
23andMe allrs786205871
SNP Nexus

SNPshotrs786205871
SNPdbers786205871
MSV3drs786205871
GWAS Ctlgrs786205871
Max Magnitude0
ClinVar
Risk rs786205871(A;A) rs786205871(C;C)
Alt rs786205871(A;A) rs786205871(C;C)
Reference Rs786205871(G;G)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)
Variation info
Gene SUCLG1
CLNDBN Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)
Reversed 1
HGVS NC_000002.11:g.84686294C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001042.3,