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rs121908374

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908374(C;T)
Make rs121908374(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position7529173
GeneMCOLN1
is asnp
is mentioned by
dbSNPrs121908374
ebirs121908374
HLIrs121908374
Exacrs121908374
Varsomers121908374
Maprs121908374
PheGenIrs121908374
hapmaprs121908374
1000 genomesrs121908374
hgdprs121908374
ensemblrs121908374
gopubmedrs121908374
geneviewrs121908374
scholarrs121908374
googlers121908374
pharmgkbrs121908374
gwascentralrs121908374
openSNPrs121908374
23andMers121908374
23andMe allrs121908374
SNP Nexus

SNPshotrs121908374
SNPdbers121908374
MSV3drs121908374
GWAS Ctlgrs121908374
Max Magnitude0
OMIM605248
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121908374(T;T)
Alt rs121908374(T;T)
Reference rs121908374(C;C)
Significance Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7594059C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005444.4,