Have questions? Visit https://www.reddit.com/r/SNPedia

rs118203886

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118203886(A;A)
Make rs118203886(A;G)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position611
GeneGTF2IRD1
is asnp
is mentioned by
dbSNPrs118203886
ebirs118203886
HLIrs118203886
Exacrs118203886
Varsomers118203886
Maprs118203886
PheGenIrs118203886
hapmaprs118203886
1000 genomesrs118203886
hgdprs118203886
ensemblrs118203886
gopubmedrs118203886
geneviewrs118203886
scholarrs118203886
googlers118203886
pharmgkbrs118203886
gwascentralrs118203886
openSNPrs118203886
23andMers118203886
23andMe allrs118203886
SNP Nexus

SNPshotrs118203886
SNPdbers118203886
MSV3drs118203886
GWAS Ctlgrs118203886
Max Magnitude0
ClinVar
Risk rs118203886(A;A)
Alt rs118203886(A;A)
Reference rs118203886(G;G)
Significance Pathogenic
Disease Myoclonus with epilepsy with ragged red fibers
Variation info
Gene
CLNDBN Myoclonus with epilepsy with ragged red fibers
Reversed 0
HGVS NC_012920.1:m.611G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010187.4,