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rs199730889

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199730889(G;T)
Make rs199730889(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position101565323
GeneTRMT10C
is asnp
is mentioned by
dbSNPrs199730889
ebirs199730889
HLIrs199730889
Exacrs199730889
Varsomers199730889
Maprs199730889
PheGenIrs199730889
hapmaprs199730889
1000 genomesrs199730889
hgdprs199730889
ensemblrs199730889
gopubmedrs199730889
geneviewrs199730889
scholarrs199730889
googlers199730889
pharmgkbrs199730889
gwascentralrs199730889
openSNPrs199730889
23andMers199730889
23andMe allrs199730889
SNP Nexus

SNPshotrs199730889
SNPdbers199730889
MSV3drs199730889
GWAS Ctlgrs199730889
Max Magnitude0
ClinVar
Risk rs199730889(T;T)
Alt rs199730889(T;T)
Reference rs199730889(G;G)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 30
Variation info
Gene TRMT10C
CLNDBN Combined oxidative phosphorylation deficiency 30
Reversed 0
HGVS NC_000003.11:g.101284167G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000225227.2,