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rs41549716

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 0.5 likely to be benign
(G;G) 0.5 likely to be benign
ReferenceGRCh38 38.1/141
Chromosome15
Position89321842
GenePOLG
is asnp
is mentioned by
dbSNPrs41549716
ebirs41549716
HLIrs41549716
Exacrs41549716
Varsomers41549716
Maprs41549716
PheGenIrs41549716
hapmaprs41549716
1000 genomesrs41549716
hgdprs41549716
ensemblrs41549716
gopubmedrs41549716
geneviewrs41549716
scholarrs41549716
googlers41549716
pharmgkbrs41549716
gwascentralrs41549716
openSNPrs41549716
23andMers41549716
23andMe allrs41549716
SNP Nexus

SNPshotrs41549716
SNPdbers41549716
MSV3drs41549716
GWAS Ctlgrs41549716
GMAF0.001837
Max Magnitude0.5

Reclassified as a variant of unknown significance, and quite likely to be benign. See OMIM 174763.0015

OMIM174763
Desc
Variant0015
Relatedalso


ClinVar
Risk rs41549716(G;G)
Alt rs41549716(G;G)
Reference rs41549716(A;A)
Significance Other
Disease Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 not specified not provided
Variation info
Gene POLG
CLNDBN Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 not specified not provided
Reversed 1
HGVS NC_000015.9:g.89865073T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014463.27, RCV000175036.3, RCV000224425.1,



GET Evidence
POLG-Y831C
aa_change Tyr831Cys
aa_change_short Y831C
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.00799405
summary A rare polymorphism in POLG, probably benign. A small study of a nuclear family hypothesized it was causing Parkinson disease, but a later study found no significant difference in incidence between cases (1/140) and controls (5/127).