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rs104894551

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894551(A;G)
Make rs104894551(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position3476230
GeneASPA, SPATA22
is asnp
is mentioned by
dbSNPrs104894551
ebirs104894551
HLIrs104894551
Exacrs104894551
Varsomers104894551
Maprs104894551
PheGenIrs104894551
hapmaprs104894551
1000 genomesrs104894551
hgdprs104894551
ensemblrs104894551
gopubmedrs104894551
geneviewrs104894551
scholarrs104894551
googlers104894551
pharmgkbrs104894551
gwascentralrs104894551
openSNPrs104894551
23andMers104894551
23andMe allrs104894551
SNP Nexus

SNPshotrs104894551
SNPdbers104894551
MSV3drs104894551
GWAS Ctlgrs104894551
Max Magnitude0
OMIM608034
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104894551(G;G)
Alt rs104894551(G;G)
Reference rs104894551(A;A)
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.3379524A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002732.2,