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rs387906500

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAG;AAG) 0 common in clinvar
(GAA;GAA) 0 common in clinvar
Make rs387906500(-;-)
Make rs387906500(-;AGA)
Make rs387906500(AGA;AGA)
ReferenceGRCh38 38.1/141
ChromosomeX
Position130147495
GeneAIFM1
is asnp
is mentioned by
dbSNPrs387906500
ebirs387906500
HLIrs387906500
Exacrs387906500
Varsomers387906500
Maprs387906500
PheGenIrs387906500
hapmaprs387906500
1000 genomesrs387906500
hgdprs387906500
ensemblrs387906500
gopubmedrs387906500
geneviewrs387906500
scholarrs387906500
googlers387906500
pharmgkbrs387906500
gwascentralrs387906500
openSNPrs387906500
23andMers387906500
23andMe allrs387906500
SNP Nexus

SNPshotrs387906500
SNPdbers387906500
MSV3drs387906500
GWAS Ctlgrs387906500
Max Magnitude0
ClinVar
Risk rs387906500(;)
Alt rs387906500(;)
Reference rs387906500(AAG;AAG)
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.129281470_129281472delTCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000012302.22,