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rs200396166

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200396166(C;T)
Make rs200396166(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position179821034
GeneSQSTM1
is asnp
is mentioned by
dbSNPrs200396166
dbSNP (classic)rs200396166
ClinGenrs200396166
ebirs200396166
HLIrs200396166
Exacrs200396166
Gnomadrs200396166
Varsomers200396166
LitVarrs200396166
Maprs200396166
PheGenIrs200396166
Biobankrs200396166
1000 genomesrs200396166
hgdprs200396166
ensemblrs200396166
geneviewrs200396166
scholarrs200396166
googlers200396166
pharmgkbrs200396166
gwascentralrs200396166
openSNPrs200396166
23andMers200396166
SNPshotrs200396166
SNPdbers200396166
MSV3drs200396166
GWAS Ctlgrs200396166
Max Magnitude0
ClinVar
Risk rs200396166(T;T)
Alt rs200396166(T;T)
Reference Rs200396166(C;C)
Significance Pathogenic
Disease Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
Variation info
Gene SQSTM1
CLNDBN Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
Reversed 0
HGVS NC_000005.9:g.179248034C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000184066.3,