Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894548

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894548(C;C)
Make rs104894548(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position3483520
GeneASPA, SPATA22
is asnp
is mentioned by
dbSNPrs104894548
ebirs104894548
HLIrs104894548
Exacrs104894548
Varsomers104894548
Maprs104894548
PheGenIrs104894548
hapmaprs104894548
1000 genomesrs104894548
hgdprs104894548
ensemblrs104894548
gopubmedrs104894548
geneviewrs104894548
scholarrs104894548
googlers104894548
pharmgkbrs104894548
gwascentralrs104894548
openSNPrs104894548
23andMers104894548
23andMe allrs104894548
SNP Nexus

SNPshotrs104894548
SNPdbers104894548
MSV3drs104894548
GWAS Ctlgrs104894548
Max Magnitude0
OMIM608034
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894548(C;C)
Alt rs104894548(C;C)
Reference rs104894548(T;T)
Significance 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.3386814T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002724.2,