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rs386134181

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs386134181(-;-)
Make rs386134181(-;CT)
ReferenceGRCh38 38.1/141
Chromosome2
Position201746696
GeneALS2
is asnp
is mentioned by
dbSNPrs386134181
ebirs386134181
HLIrs386134181
Exacrs386134181
Varsomers386134181
Maprs386134181
PheGenIrs386134181
hapmaprs386134181
1000 genomesrs386134181
hgdprs386134181
ensemblrs386134181
gopubmedrs386134181
geneviewrs386134181
scholarrs386134181
googlers386134181
pharmgkbrs386134181
gwascentralrs386134181
openSNPrs386134181
23andMers386134181
23andMe allrs386134181
SNP Nexus

SNPshotrs386134181
SNPdbers386134181
MSV3drs386134181
GWAS Ctlgrs386134181
Max Magnitude0
ClinVar
Risk rs386134181(;)
Alt rs386134181(;)
Reference rs386134181(CT;CT)
Significance Pathogenic
Disease Juvenile primary lateral sclerosis
Variation info
Gene ALS2
CLNDBN Juvenile primary lateral sclerosis
Reversed 1
HGVS NC_000002.11:g.202611419_202611420delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000004656.5,


[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.