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rs202219507

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs202219507(A;A)
Make rs202219507(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position201733377
GeneALS2
is asnp
is mentioned by
dbSNPrs202219507
dbSNP (old)rs202219507
ClinGenrs202219507
ebirs202219507
HLIrs202219507
Exacrs202219507
Gnomadrs202219507
Varsomers202219507
LitVarrs202219507
Maprs202219507
PheGenIrs202219507
Biobankrs202219507
1000 genomesrs202219507
hgdprs202219507
ensemblrs202219507
gopubmedrs202219507
geneviewrs202219507
scholarrs202219507
googlers202219507
pharmgkbrs202219507
gwascentralrs202219507
openSNPrs202219507
23andMers202219507
23andMe allrs202219507
SNPshotrs202219507
SNPdbers202219507
MSV3drs202219507
GWAS Ctlgrs202219507
Max Magnitude0
ClinVar
Risk rs202219507(A;A)
Alt rs202219507(A;A)
Reference Rs202219507(T;T)
Significance Probable-Pathogenic
Disease Amyotrophic Lateral Sclerosis ALS2-Related Spectrum Disorders Peripheral axonal neuropathy
Variation info
Gene ALS2
CLNDBN Amyotrophic Lateral Sclerosis, Recessive ALS2-Related Spectrum Disorders Peripheral axonal neuropathy
Reversed 0
HGVS NC_000002.11:g.202598100T>A
CLNSRC
CLNACC RCV000328276.1, RCV000382737.1, RCV000414980.1,