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rs121908371

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908371(C;T)
Make rs121908371(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position7528683
GeneMCOLN1
is asnp
is mentioned by
dbSNPrs121908371
ebirs121908371
HLIrs121908371
Exacrs121908371
Varsomers121908371
Maprs121908371
PheGenIrs121908371
hapmaprs121908371
1000 genomesrs121908371
hgdprs121908371
ensemblrs121908371
gopubmedrs121908371
geneviewrs121908371
scholarrs121908371
googlers121908371
pharmgkbrs121908371
gwascentralrs121908371
openSNPrs121908371
23andMers121908371
23andMe allrs121908371
SNP Nexus

SNPshotrs121908371
SNPdbers121908371
MSV3drs121908371
GWAS Ctlgrs121908371
Max Magnitude0
OMIM605248
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908371(T;T)
Alt rs121908371(T;T)
Reference rs121908371(C;C)
Significance Other
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7593569C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005440.5,