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rs1057516416

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a Canavan disease mutation
(T;T) 8 Canavan disease (predicted)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position3494355
GeneASPA, SPATA22
is asnp
is mentioned by
dbSNPrs1057516416
dbSNP (old)rs1057516416
ClinGenrs1057516416
ebirs1057516416
HLIrs1057516416
Exacrs1057516416
Gnomadrs1057516416
Varsomers1057516416
Maprs1057516416
PheGenIrs1057516416
Biobankrs1057516416
1000 genomesrs1057516416
hgdprs1057516416
ensemblrs1057516416
gopubmedrs1057516416
geneviewrs1057516416
scholarrs1057516416
googlers1057516416
pharmgkbrs1057516416
gwascentralrs1057516416
openSNPrs1057516416
23andMers1057516416
23andMe allrs1057516416
SNPshotrs1057516416
SNPdbers1057516416
MSV3drs1057516416
GWAS Ctlgrs1057516416
Max Magnitude8
ClinVar
Risk Rs1057516416(T;T)
Alt Rs1057516416(T;T)
Reference Rs1057516416(G;G)
Significance Probable-Pathogenic
Disease Spongy degeneration of central nervous system
Variation info
Gene ASPA SPATA22
CLNDBN Spongy degeneration of central nervous system
Reversed 0
HGVS NC_000017.10:g.3397649G>T
CLNSRC
CLNACC RCV000409149.1,