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rs183973249

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs183973249(A;G)
Make rs183973249(G;G)
ReferenceGRCh38 38.1/142
Chromosome8
Position73981153
GeneTMEM70
is asnp
is mentioned by
dbSNPrs183973249
ebirs183973249
HLIrs183973249
Exacrs183973249
Varsomers183973249
Maprs183973249
PheGenIrs183973249
hapmaprs183973249
1000 genomesrs183973249
hgdprs183973249
ensemblrs183973249
gopubmedrs183973249
geneviewrs183973249
scholarrs183973249
googlers183973249
pharmgkbrs183973249
gwascentralrs183973249
openSNPrs183973249
23andMers183973249
23andMe allrs183973249
SNP Nexus

SNPshotrs183973249
SNPdbers183973249
MSV3drs183973249
GWAS Ctlgrs183973249
Max Magnitude0
ClinVar
Risk rs183973249(G;G)
Alt rs183973249(G;G)
Reference rs183973249(A;A)
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.74893388A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000570.5,