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rs1057516211

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516211(A;G)
Make rs1057516211(G;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position130133325
GeneAIFM1, RAB33A
is asnp
is mentioned by
dbSNPrs1057516211
dbSNP (old)rs1057516211
ClinGenrs1057516211
ebirs1057516211
HLIrs1057516211
Exacrs1057516211
Gnomadrs1057516211
Varsomers1057516211
LitVarrs1057516211
Maprs1057516211
PheGenIrs1057516211
Biobankrs1057516211
1000 genomesrs1057516211
hgdprs1057516211
ensemblrs1057516211
gopubmedrs1057516211
geneviewrs1057516211
scholarrs1057516211
googlers1057516211
pharmgkbrs1057516211
gwascentralrs1057516211
openSNPrs1057516211
23andMers1057516211
23andMe allrs1057516211
SNPshotrs1057516211
SNPdbers1057516211
MSV3drs1057516211
GWAS Ctlgrs1057516211
Max Magnitude0
ClinVar
Risk rs1057516211(G;G)
Alt rs1057516211(G;G)
Reference Rs1057516211(A;A)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 6
Variation info
Gene AIFM1
CLNDBN Combined oxidative phosphorylation deficiency 6
Reversed 1
HGVS NC_000023.10:g.129267300T>C
CLNSRC
CLNACC RCV000408758.1,