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rs1057517685

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517685(A;G)
Make rs1057517685(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position60975763
GeneTRMT5
is asnp
is mentioned by
dbSNPrs1057517685
dbSNP (old)rs1057517685
ClinGenrs1057517685
ebirs1057517685
HLIrs1057517685
Exacrs1057517685
Gnomadrs1057517685
Varsomers1057517685
Maprs1057517685
PheGenIrs1057517685
Biobankrs1057517685
1000 genomesrs1057517685
hgdprs1057517685
ensemblrs1057517685
gopubmedrs1057517685
geneviewrs1057517685
scholarrs1057517685
googlers1057517685
pharmgkbrs1057517685
gwascentralrs1057517685
openSNPrs1057517685
23andMers1057517685
23andMe allrs1057517685
SNPshotrs1057517685
SNPdbers1057517685
MSV3drs1057517685
GWAS Ctlgrs1057517685
Max Magnitude0
ClinVar
Risk rs1057517685(G;G)
Alt rs1057517685(G;G)
Reference Rs1057517685(A;A)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 26
Variation info
Gene TRMT5
CLNDBN Combined oxidative phosphorylation deficiency 26
Reversed 1
HGVS NC_000014.8:g.61442481T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000412548.1,