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rs775129424

From SNPedia

Orientationplus
Stabilizedplus


Make rs775129424(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position134898383
GeneACMSD, CCNT2-AS1
is asnp
is mentioned by
dbSNPrs775129424
dbSNP (classic)rs775129424
ClinGenrs775129424
ebirs775129424
HLIrs775129424
Exacrs775129424
Gnomadrs775129424
Varsomers775129424
LitVarrs775129424
Maprs775129424
PheGenIrs775129424
Biobankrs775129424
1000 genomesrs775129424
hgdprs775129424
ensemblrs775129424
geneviewrs775129424
scholarrs775129424
googlers775129424
pharmgkbrs775129424
gwascentralrs775129424
openSNPrs775129424
23andMers775129424
23andMe allrs775129424
SNPshotrs775129424
SNPdbers775129424
MSV3drs775129424
GWAS Ctlgrs775129424
Max Magnitude0

A mutation in the ACMSD gene, rs775129424(A), also known as p.Glu298Lys or E298K, is considered to be the likely cause of Parkinson's disease in a male diagnosed at age 74. It appeared to be a sporadic (de novo) germline mutation, acting in a dominant manner.[PMID 28671144OA-icon.png]