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rs3219156

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0
Make rs3219156(A;A)
Make rs3219156(A;G)
Make rs3219156(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position201760892
GeneALS2
is asnp
is mentioned by
dbSNPrs3219156
ebirs3219156
HLIrs3219156
Exacrs3219156
Varsomers3219156
Maprs3219156
PheGenIrs3219156
hapmaprs3219156
1000 genomesrs3219156
hgdprs3219156
ensemblrs3219156
gopubmedrs3219156
geneviewrs3219156
scholarrs3219156
googlers3219156
pharmgkbrs3219156
gwascentralrs3219156
openSNPrs3219156
23andMers3219156
23andMe allrs3219156
SNP Nexus

SNPshotrs3219156
SNPdbers3219156
MSV3drs3219156
GWAS Ctlgrs3219156
GMAF0.101
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene ALS2
allele T
frequency 0.9
sift TOLERATED
HuRef 1103658338461
Disease Association Defects in ALS2 are the cause of infantile-onset ascending spastic paralysis (IAHSP) (MIM:607225). IAHSP is characterized by progressive spasticity and weakness of limbs.



GET Evidence
ALS2-V368M
aa_change Val368Met
aa_change_short V368M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.858711
summary