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rs398122942

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122942(A;A)
Make rs398122942(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position185143484
GeneSLC25A4
is asnp
is mentioned by
dbSNPrs398122942
ebirs398122942
HLIrs398122942
Exacrs398122942
Varsomers398122942
Maprs398122942
PheGenIrs398122942
hapmaprs398122942
1000 genomesrs398122942
hgdprs398122942
ensemblrs398122942
gopubmedrs398122942
geneviewrs398122942
scholarrs398122942
googlers398122942
pharmgkbrs398122942
gwascentralrs398122942
openSNPrs398122942
23andMers398122942
23andMe allrs398122942
SNP Nexus

SNPshotrs398122942
SNPdbers398122942
MSV3drs398122942
GWAS Ctlgrs398122942
Max Magnitude0
ClinVar
Risk rs398122942(A;A)
Alt rs398122942(A;A)
Reference rs398122942(G;G)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)
Variation info
Gene SLC25A4
CLNDBN Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)
Reversed 0
HGVS NC_000004.11:g.186064638G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000056253.28,