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rs386134173

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386134173(-;-)
Make rs386134173(-;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position201767266
GeneALS2
is asnp
is mentioned by
dbSNPrs386134173
ebirs386134173
HLIrs386134173
Exacrs386134173
Varsomers386134173
Maprs386134173
PheGenIrs386134173
hapmaprs386134173
1000 genomesrs386134173
hgdprs386134173
ensemblrs386134173
gopubmedrs386134173
geneviewrs386134173
scholarrs386134173
googlers386134173
pharmgkbrs386134173
gwascentralrs386134173
openSNPrs386134173
23andMers386134173
23andMe allrs386134173
SNP Nexus

SNPshotrs386134173
SNPdbers386134173
MSV3drs386134173
GWAS Ctlgrs386134173
Max Magnitude0
ClinVar
Risk rs386134173(;)
Alt rs386134173(;)
Reference rs386134173(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.202631989delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000004655.5,


[PMID 11586297] The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.


[PMID 11586298] A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.