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

rs121908372

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908372(G;T)
Make rs121908372(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position7528920
GeneMCOLN1
is asnp
is mentioned by
dbSNPrs121908372
ebirs121908372
HLIrs121908372
Exacrs121908372
Varsomers121908372
Maprs121908372
PheGenIrs121908372
hapmaprs121908372
1000 genomesrs121908372
hgdprs121908372
ensemblrs121908372
gopubmedrs121908372
geneviewrs121908372
scholarrs121908372
googlers121908372
pharmgkbrs121908372
gwascentralrs121908372
openSNPrs121908372
23andMers121908372
23andMe allrs121908372
SNP Nexus

SNPshotrs121908372
SNPdbers121908372
MSV3drs121908372
GWAS Ctlgrs121908372
Max Magnitude0
OMIM605248
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908372(T;T)
Alt rs121908372(T;T)
Reference rs121908372(G;G)
Significance Other
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7593806G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005442.6,