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rs386134179

From SNPedia

Orientationminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs386134179(-;CAGTG)
Make rs386134179(CAGTG;CAGTG)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position201746738
GeneALS2
is asnp
is mentioned by
dbSNPrs386134179
ClinGenrs386134179
ebirs386134179
HLIrs386134179
Exacrs386134179
Varsomers386134179
Maprs386134179
PheGenIrs386134179
hapmaprs386134179
1000 genomesrs386134179
hgdprs386134179
ensemblrs386134179
gopubmedrs386134179
geneviewrs386134179
scholarrs386134179
googlers386134179
pharmgkbrs386134179
gwascentralrs386134179
openSNPrs386134179
23andMers386134179
23andMe allrs386134179
SNP Nexus

SNPshotrs386134179
SNPdbers386134179
MSV3drs386134179
GWAS Ctlgrs386134179
Max Magnitude0
ClinVar
Risk rs386134179(CAGTG;CAGTG)
Alt rs386134179(CAGTG;CAGTG)
Reference Rs386134179(;)
Significance Pathogenic
Disease Infantile-onset ascending hereditary spastic paralysis
Variation info
Gene ALS2
CLNDBN Infantile-onset ascending hereditary spastic paralysis
Reversed 1
HGVS NC_000002.11:g.202611462_202611466dupCACTG
CLNSRC
CLNACC RCV000034965.2,