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rs104894168

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894168(C;T)
Make rs104894168(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position73250935
GeneDNAJC9-AS1, MRPS16
is asnp
is mentioned by
dbSNPrs104894168
dbSNP (classic)rs104894168
ClinGenrs104894168
ebirs104894168
HLIrs104894168
Exacrs104894168
Gnomadrs104894168
Varsomers104894168
LitVarrs104894168
Maprs104894168
PheGenIrs104894168
Biobankrs104894168
1000 genomesrs104894168
hgdprs104894168
ensemblrs104894168
geneviewrs104894168
scholarrs104894168
googlers104894168
pharmgkbrs104894168
gwascentralrs104894168
openSNPrs104894168
23andMers104894168
SNPshotrs104894168
SNPdbers104894168
MSV3drs104894168
GWAS Ctlgrs104894168
Max Magnitude0
OMIM609204
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894168(T;T)
Alt rs104894168(T;T)
Reference Rs104894168(C;C)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 2
Variation info
Gene LOC101929112 DNAJC9-AS1 MRPS16
CLNDBN Combined oxidative phosphorylation deficiency 2
Reversed 1
HGVS NC_000010.10:g.75010693G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001909.2,