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rs587776943

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587776943(A;A)
Make rs587776943(A;G)
ReferenceGRCh38 38.1/142
Chromosome20
Position17970315
GeneMGME1, SNX5
is asnp
is mentioned by
dbSNPrs587776943
ebirs587776943
HLIrs587776943
Exacrs587776943
Varsomers587776943
Maprs587776943
PheGenIrs587776943
hapmaprs587776943
1000 genomesrs587776943
hgdprs587776943
ensemblrs587776943
gopubmedrs587776943
geneviewrs587776943
scholarrs587776943
googlers587776943
pharmgkbrs587776943
gwascentralrs587776943
openSNPrs587776943
23andMers587776943
23andMe allrs587776943
SNP Nexus

SNPshotrs587776943
SNPdbers587776943
MSV3drs587776943
GWAS Ctlgrs587776943
Max Magnitude0
ClinVar
Risk rs587776943(A;A)
Alt rs587776943(A;A)
Reference rs587776943(G;G)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 11
Variation info
Gene MGME1 SNX5
CLNDBN Mitochondrial DNA depletion syndrome 11
Reversed 0
HGVS NC_000020.10:g.17950958G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033150.2,