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rs104894550

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894550(A;G)
Make rs104894550(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position3494407
GeneASPA, SPATA22
is asnp
is mentioned by
dbSNPrs104894550
ebirs104894550
HLIrs104894550
Exacrs104894550
Varsomers104894550
Maprs104894550
PheGenIrs104894550
hapmaprs104894550
1000 genomesrs104894550
hgdprs104894550
ensemblrs104894550
gopubmedrs104894550
geneviewrs104894550
scholarrs104894550
googlers104894550
pharmgkbrs104894550
gwascentralrs104894550
openSNPrs104894550
23andMers104894550
23andMe allrs104894550
SNP Nexus

SNPshotrs104894550
SNPdbers104894550
MSV3drs104894550
GWAS Ctlgrs104894550
Max Magnitude0
OMIM608034
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894550(G;G)
Alt rs104894550(G;G)
Reference rs104894550(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.3397701A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002730.2,