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rs1057516995

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of a Canavan disease mutation
(G;G) 8 Canavan disease (predicted)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position3494446
GeneASPA, SPATA22
is asnp
is mentioned by
dbSNPrs1057516995
dbSNP (old)rs1057516995
ClinGenrs1057516995
ebirs1057516995
HLIrs1057516995
Exacrs1057516995
Gnomadrs1057516995
Varsomers1057516995
Maprs1057516995
PheGenIrs1057516995
Biobankrs1057516995
1000 genomesrs1057516995
hgdprs1057516995
ensemblrs1057516995
gopubmedrs1057516995
geneviewrs1057516995
scholarrs1057516995
googlers1057516995
pharmgkbrs1057516995
gwascentralrs1057516995
openSNPrs1057516995
23andMers1057516995
23andMe allrs1057516995
SNPshotrs1057516995
SNPdbers1057516995
MSV3drs1057516995
GWAS Ctlgrs1057516995
Max Magnitude8
ClinVar
Risk Rs1057516995(G;G)
Alt Rs1057516995(G;G)
Reference Rs1057516995(A;A)
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.3397740A>G
CLNSRC
CLNACC RCV000411129.1,