Have questions? Visit https://www.reddit.com/r/SNPedia

rs104893979

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893979(C;T)
Make rs104893979(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position31860117
GeneNEU1
is asnp
is mentioned by
dbSNPrs104893979
ebirs104893979
HLIrs104893979
Exacrs104893979
Varsomers104893979
Maprs104893979
PheGenIrs104893979
hapmaprs104893979
1000 genomesrs104893979
hgdprs104893979
ensemblrs104893979
gopubmedrs104893979
geneviewrs104893979
scholarrs104893979
googlers104893979
pharmgkbrs104893979
gwascentralrs104893979
openSNPrs104893979
23andMers104893979
23andMe allrs104893979
SNP Nexus

SNPshotrs104893979
SNPdbers104893979
MSV3drs104893979
GWAS Ctlgrs104893979
Max Magnitude0
OMIM608272
Desc
Variant0012
Relatedalso
ClinVar
Risk rs104893979(T;T)
Alt rs104893979(T;T)
Reference rs104893979(C;C)
Significance Pathogenic
Disease Sialidosis type I
Variation info
Gene NEU1
CLNDBN Sialidosis type I
Reversed 1
HGVS NC_000006.11:g.31827894G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002558.2,