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rs104894549

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894549(A;A)
Make rs104894549(A;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position3494369
GeneASPA, SPATA22
is asnp
is mentioned by
dbSNPrs104894549
ebirs104894549
HLIrs104894549
Exacrs104894549
Varsomers104894549
Maprs104894549
PheGenIrs104894549
hapmaprs104894549
1000 genomesrs104894549
hgdprs104894549
ensemblrs104894549
gopubmedrs104894549
geneviewrs104894549
scholarrs104894549
googlers104894549
pharmgkbrs104894549
gwascentralrs104894549
openSNPrs104894549
23andMers104894549
23andMe allrs104894549
SNP Nexus

SNPshotrs104894549
SNPdbers104894549
MSV3drs104894549
GWAS Ctlgrs104894549
Max Magnitude0
OMIM608034
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894549(A,T;A,T)
Alt rs104894549(A,T;A,T)
Reference rs104894549(C;C)
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.3397663C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002726.2,