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rs104894554

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894554(A;A)
Make rs104894554(A;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position18028276
GeneATPAF2
is asnp
is mentioned by
dbSNPrs104894554
ebirs104894554
HLIrs104894554
Exacrs104894554
Varsomers104894554
Maprs104894554
PheGenIrs104894554
hapmaprs104894554
1000 genomesrs104894554
hgdprs104894554
ensemblrs104894554
gopubmedrs104894554
geneviewrs104894554
scholarrs104894554
googlers104894554
pharmgkbrs104894554
gwascentralrs104894554
openSNPrs104894554
23andMers104894554
23andMe allrs104894554
SNP Nexus

SNPshotrs104894554
SNPdbers104894554
MSV3drs104894554
GWAS Ctlgrs104894554
Max Magnitude0
OMIM608918
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894554(A;A)
Alt rs104894554(A;A)
Reference rs104894554(T;T)
Significance Pathogenic
Disease Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1
Variation info
Gene ATPAF2
CLNDBN Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1
Reversed 1
HGVS NC_000017.10:g.17931590A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002072.2,