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rs199474701

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199474701(A;A)
Make rs199474701(A;G)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position15967
GeneC6orf130
is asnp
is mentioned by
dbSNPrs199474701
ebirs199474701
HLIrs199474701
Exacrs199474701
Varsomers199474701
Maprs199474701
PheGenIrs199474701
hapmaprs199474701
1000 genomesrs199474701
hgdprs199474701
ensemblrs199474701
gopubmedrs199474701
geneviewrs199474701
scholarrs199474701
googlers199474701
pharmgkbrs199474701
gwascentralrs199474701
openSNPrs199474701
23andMers199474701
23andMe allrs199474701
SNP Nexus

SNPshotrs199474701
SNPdbers199474701
MSV3drs199474701
GWAS Ctlgrs199474701
Max Magnitude0
ClinVar
Risk rs199474701(A;A)
Alt rs199474701(A;A)
Reference rs199474701(G;G)
Significance Pathogenic
Disease MERFF syndrome Myoclonus with epilepsy with ragged red fibers
Variation info
Gene
CLNDBN MERFF syndrome Myoclonus with epilepsy with ragged red fibers
Reversed 0
HGVS NC_012920.1:m.15967G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010185.2, RCV000192058.1,