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rs587776944

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587776944(A;G)
Make rs587776944(G;G)
ReferenceGRCh38 38.1/142
Chromosome20
Position17975870
GeneMGME1
is asnp
is mentioned by
dbSNPrs587776944
ebirs587776944
HLIrs587776944
Exacrs587776944
Varsomers587776944
Maprs587776944
PheGenIrs587776944
hapmaprs587776944
1000 genomesrs587776944
hgdprs587776944
ensemblrs587776944
gopubmedrs587776944
geneviewrs587776944
scholarrs587776944
googlers587776944
pharmgkbrs587776944
gwascentralrs587776944
openSNPrs587776944
23andMers587776944
23andMe allrs587776944
SNP Nexus

SNPshotrs587776944
SNPdbers587776944
MSV3drs587776944
GWAS Ctlgrs587776944
Max Magnitude0
ClinVar
Risk rs587776944(G;G)
Alt rs587776944(G;G)
Reference rs587776944(A;A)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 11
Variation info
Gene MGME1
CLNDBN Mitochondrial DNA depletion syndrome 11
Reversed 0
HGVS NC_000020.10:g.17956513A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000033151.2,