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rs121908373

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908373(C;T)
Make rs121908373(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position7526505
GeneMCOLN1
is asnp
is mentioned by
dbSNPrs121908373
ebirs121908373
HLIrs121908373
Exacrs121908373
Varsomers121908373
Maprs121908373
PheGenIrs121908373
hapmaprs121908373
1000 genomesrs121908373
hgdprs121908373
ensemblrs121908373
gopubmedrs121908373
geneviewrs121908373
scholarrs121908373
googlers121908373
pharmgkbrs121908373
gwascentralrs121908373
openSNPrs121908373
23andMers121908373
23andMe allrs121908373
SNP Nexus

SNPshotrs121908373
SNPdbers121908373
MSV3drs121908373
GWAS Ctlgrs121908373
Max Magnitude0
OMIM605248
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908373(T;T)
Alt rs121908373(T;T)
Reference rs121908373(C;C)
Significance Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7591391C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005443.3,