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rs201477273

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201477273(A;A)
Make rs201477273(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position89320857
GenePOLG
is asnp
is mentioned by
dbSNPrs201477273
dbSNP (classic)rs201477273
ClinGenrs201477273
ebirs201477273
HLIrs201477273
Exacrs201477273
Gnomadrs201477273
Varsomers201477273
LitVarrs201477273
Maprs201477273
PheGenIrs201477273
Biobankrs201477273
1000 genomesrs201477273
hgdprs201477273
ensemblrs201477273
geneviewrs201477273
scholarrs201477273
googlers201477273
pharmgkbrs201477273
gwascentralrs201477273
openSNPrs201477273
23andMers201477273
SNPshotrs201477273
SNPdbers201477273
MSV3drs201477273
GWAS Ctlgrs201477273
Max Magnitude0
ClinVar
Risk rs201477273(A;A)
Alt rs201477273(A;A)
Reference Rs201477273(G;G)
Significance Pathogenic
Disease not provided not specified Mitochondrial DNA depletion syndrome 4B Progressive sclerosing poliodystrophy
Variation info
Gene POLG
CLNDBN not provided not specified Mitochondrial DNA depletion syndrome 4B, MNGIE type Progressive sclerosing poliodystrophy
Reversed 0
HGVS NC_000015.9:g.89864088G>A
CLNSRC
CLNACC RCV000188591.4, RCV000271465.1, RCV000490261.1,