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rs770816416

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs770816416(A;A)
Make rs770816416(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome4
Position185145867
GeneSLC25A4
is asnp
is mentioned by
dbSNPrs770816416
dbSNP (classic)rs770816416
ClinGenrs770816416
ebirs770816416
HLIrs770816416
Exacrs770816416
Gnomadrs770816416
Varsomers770816416
LitVarrs770816416
Maprs770816416
PheGenIrs770816416
Biobankrs770816416
1000 genomesrs770816416
hgdprs770816416
ensemblrs770816416
geneviewrs770816416
scholarrs770816416
googlers770816416
pharmgkbrs770816416
gwascentralrs770816416
openSNPrs770816416
23andMers770816416
SNPshotrs770816416
SNPdbers770816416
MSV3drs770816416
GWAS Ctlgrs770816416
Max Magnitude0
ClinVar
Risk rs770816416(A;A) rs770816416(C;C)
Alt rs770816416(A;A) rs770816416(C;C)
Reference Rs770816416(G;G)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type)
Variation info
Gene SLC25A4
CLNDBN Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive
Reversed 0
HGVS NC_000004.11:g.186067021G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000258878.1,