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rs1060502161

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs1060502161(AG;T)
Make rs1060502161(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position13016933
GeneELAC2
is asnp
is mentioned by
dbSNPrs1060502161
dbSNP (old)rs1060502161
ClinGenrs1060502161
ebirs1060502161
HLIrs1060502161
Exacrs1060502161
Gnomadrs1060502161
Varsomers1060502161
Maprs1060502161
PheGenIrs1060502161
Biobankrs1060502161
1000 genomesrs1060502161
hgdprs1060502161
ensemblrs1060502161
gopubmedrs1060502161
geneviewrs1060502161
scholarrs1060502161
googlers1060502161
pharmgkbrs1060502161
gwascentralrs1060502161
openSNPrs1060502161
23andMers1060502161
23andMe allrs1060502161
SNPshotrs1060502161
SNPdbers1060502161
MSV3drs1060502161
GWAS Ctlgrs1060502161
Max Magnitude0
ClinVar
Risk rs1060502161(T;T)
Alt rs1060502161(T;T)
Reference Rs1060502161(AG;AG)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 17 not provided
Variation info
Gene ELAC2
CLNDBN Combined oxidative phosphorylation deficiency 17 not provided
Reversed 1
HGVS NC_000017.10:g.12920250_12920251delCTinsA
CLNSRC
CLNACC RCV000472057.1, RCV000484886.1,