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rs387907070

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907070(C;T)
Make rs387907070(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position73978783
GeneTMEM70
is asnp
is mentioned by
dbSNPrs387907070
ebirs387907070
HLIrs387907070
Exacrs387907070
Varsomers387907070
Maprs387907070
PheGenIrs387907070
hapmaprs387907070
1000 genomesrs387907070
hgdprs387907070
ensemblrs387907070
gopubmedrs387907070
geneviewrs387907070
scholarrs387907070
googlers387907070
pharmgkbrs387907070
gwascentralrs387907070
openSNPrs387907070
23andMers387907070
23andMe allrs387907070
SNP Nexus

SNPshotrs387907070
SNPdbers387907070
MSV3drs387907070
GWAS Ctlgrs387907070
Max Magnitude0
ClinVar
Risk rs387907070(T;T)
Alt rs387907070(T;T)
Reference rs387907070(C;C)
Significance Pathogenic
Disease Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2
Variation info
Gene TMEM70
CLNDBN Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2
Reversed 0
HGVS NC_000008.10:g.74891018C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023948.3,