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rs104893986

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893986(A;A)
Make rs104893986(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position31862708
GeneNEU1, SLC44A4
is asnp
is mentioned by
dbSNPrs104893986
ebirs104893986
HLIrs104893986
Exacrs104893986
Varsomers104893986
Maprs104893986
PheGenIrs104893986
hapmaprs104893986
1000 genomesrs104893986
hgdprs104893986
ensemblrs104893986
gopubmedrs104893986
geneviewrs104893986
scholarrs104893986
googlers104893986
pharmgkbrs104893986
gwascentralrs104893986
openSNPrs104893986
23andMers104893986
23andMe allrs104893986
SNP Nexus

SNPshotrs104893986
SNPdbers104893986
MSV3drs104893986
GWAS Ctlgrs104893986
Max Magnitude0
OMIM608272
Desc
Variant0016
Relatedalso
ClinVar
Risk rs104893986(A;A)
Alt rs104893986(A;A)
Reference rs104893986(G;G)
Significance Pathogenic
Disease Sialidosis
Variation info
Gene SLC44A4 NEU1
CLNDBN Sialidosis, type II
Reversed 1
HGVS NC_000006.11:g.31830485C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002562.2,