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rs28940583

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs28940583(A;A)
Make rs28940583(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position31860588
GeneNEU1
is asnp
is mentioned by
dbSNPrs28940583
ebirs28940583
HLIrs28940583
Exacrs28940583
Varsomers28940583
Maprs28940583
PheGenIrs28940583
hapmaprs28940583
1000 genomesrs28940583
hgdprs28940583
ensemblrs28940583
gopubmedrs28940583
geneviewrs28940583
scholarrs28940583
googlers28940583
pharmgkbrs28940583
gwascentralrs28940583
openSNPrs28940583
23andMers28940583
23andMe allrs28940583
SNP Nexus

SNPshotrs28940583
SNPdbers28940583
MSV3drs28940583
GWAS Ctlgrs28940583
Merged fromRs104893982
GMAF0.0004591
Max Magnitude0
OMIM608272
DescSIALIDOSIS, TYPE I
Variant0007
Relatedalso
Neighborrs28940584
Distance25


ClinVar
Risk rs28940583(A;A)
Alt rs28940583(A;A)
Reference rs28940583(G;G)
Significance Pathogenic
Disease Sialidosis type I
Variation info
Gene NEU1
CLNDBN Sialidosis type I
Reversed 1
HGVS NC_000006.11:g.31828365C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002553.3,