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rs104894552

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894552(A;T)
Make rs104894552(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position3498892
GeneASPA, SPATA22
is asnp
is mentioned by
dbSNPrs104894552
ebirs104894552
HLIrs104894552
Exacrs104894552
Varsomers104894552
Maprs104894552
PheGenIrs104894552
hapmaprs104894552
1000 genomesrs104894552
hgdprs104894552
ensemblrs104894552
gopubmedrs104894552
geneviewrs104894552
scholarrs104894552
googlers104894552
pharmgkbrs104894552
gwascentralrs104894552
openSNPrs104894552
23andMers104894552
23andMe allrs104894552
SNP Nexus

SNPshotrs104894552
SNPdbers104894552
MSV3drs104894552
GWAS Ctlgrs104894552
Max Magnitude0
OMIM608034
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104894552(T;T)
Alt rs104894552(T;T)
Reference rs104894552(A;A)
Significance Pathogenic
Disease Spongy degeneration of central nervous system
Variation info
Gene SPATA22 ASPA
CLNDBN Spongy degeneration of central nervous system
Reversed 0
HGVS NC_000017.10:g.3402186A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002733.2,