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rs199565861

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 3 Carrier of a Canavan disease mutation
(T;T) 8 Canavan disease (predicted)
Make rs199565861(A;G)
Make rs199565861(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position3481793
GeneASPA, SPATA22
is asnp
is mentioned by
dbSNPrs199565861
dbSNP (old)rs199565861
ClinGenrs199565861
ebirs199565861
HLIrs199565861
Exacrs199565861
Gnomadrs199565861
Varsomers199565861
Maprs199565861
PheGenIrs199565861
Biobankrs199565861
1000 genomesrs199565861
hgdprs199565861
ensemblrs199565861
gopubmedrs199565861
geneviewrs199565861
scholarrs199565861
googlers199565861
pharmgkbrs199565861
gwascentralrs199565861
openSNPrs199565861
23andMers199565861
23andMe allrs199565861
SNPshotrs199565861
SNPdbers199565861
MSV3drs199565861
GWAS Ctlgrs199565861
Max Magnitude8
ClinVar
Risk rs199565861(G;G) Rs199565861(T;T)
Alt rs199565861(G;G) Rs199565861(T;T)
Reference Rs199565861(A;A)
Significance Pathogenic
Disease not provided
Variation info
Gene ASPA SPATA22
CLNDBN not provided
Reversed 0
HGVS NC_000017.10:g.3385087A>T
CLNSRC
CLNACC RCV000414045.1,