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rs121912683

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912683(A;A)
Make rs121912683(A;C)
ReferenceGRCh38 38.1/141
Chromosome4
Position185145020
GeneSLC25A4
is asnp
is mentioned by
dbSNPrs121912683
ebirs121912683
HLIrs121912683
Exacrs121912683
Varsomers121912683
Maprs121912683
PheGenIrs121912683
hapmaprs121912683
1000 genomesrs121912683
hgdprs121912683
ensemblrs121912683
gopubmedrs121912683
geneviewrs121912683
scholarrs121912683
googlers121912683
pharmgkbrs121912683
gwascentralrs121912683
openSNPrs121912683
23andMers121912683
23andMe allrs121912683
SNP Nexus

SNPshotrs121912683
SNPdbers121912683
MSV3drs121912683
GWAS Ctlgrs121912683
Max Magnitude0
OMIM103220
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912683(A;A)
Alt rs121912683(A;A)
Reference rs121912683(C;C)
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.186066174C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019911.28,