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rs386134174

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386134174(-;-)
Make rs386134174(-;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position201761441
GeneALS2
is asnp
is mentioned by
dbSNPrs386134174
ebirs386134174
HLIrs386134174
Exacrs386134174
Varsomers386134174
Maprs386134174
PheGenIrs386134174
hapmaprs386134174
1000 genomesrs386134174
hgdprs386134174
ensemblrs386134174
gopubmedrs386134174
geneviewrs386134174
scholarrs386134174
googlers386134174
pharmgkbrs386134174
gwascentralrs386134174
openSNPrs386134174
23andMers386134174
23andMe allrs386134174
SNP Nexus

SNPshotrs386134174
SNPdbers386134174
MSV3drs386134174
GWAS Ctlgrs386134174
Max Magnitude0
ClinVar
Risk rs386134174(;)
Alt rs386134174(;)
Reference rs386134174(A;A)
Significance Pathogenic
Disease Amyotrophic lateral sclerosis type 2
Variation info
Gene ALS2
CLNDBN Amyotrophic lateral sclerosis type 2
Reversed 1
HGVS NC_000002.11:g.202626164delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000004664.7,


[PMID 16240357] Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis.