Rs104894168

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Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894168(C;T)
Make rs104894168(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position73250935
GeneDCDC2B, DNAJC9-AS1, MRPS16
is asnp
is mentioned by
dbSNPrs104894168
Exacrs104894168
PheGenIrs104894168
nextbiors104894168
hapmaprs104894168
1000 genomesrs104894168
hgdprs104894168
ensemblrs104894168
gopubmedrs104894168
geneviewrs104894168
scholarrs104894168
googlers104894168
pharmgkbrs104894168
gwascentralrs104894168
openSNPrs104894168
23andMers104894168
23andMe allrs104894168
SNP Nexus

SNPshotrs104894168
SNPdbers104894168
MSV3drs104894168
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 DNAJC9-AS1 MRPS16
CLNDBN Combined oxidative phosphorylation deficiency 2
Reversed 1
HGVS NC_000010.10:g.75010693G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001909.1,