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rs797044826

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044826(G;T)
Make rs797044826(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position7526852
GeneLOC105372261, MCOLN1
is asnp
is mentioned by
dbSNPrs797044826
ebirs797044826
HLIrs797044826
Exacrs797044826
Varsomers797044826
Maprs797044826
PheGenIrs797044826
hapmaprs797044826
1000 genomesrs797044826
hgdprs797044826
ensemblrs797044826
gopubmedrs797044826
geneviewrs797044826
scholarrs797044826
googlers797044826
pharmgkbrs797044826
gwascentralrs797044826
openSNPrs797044826
23andMers797044826
23andMe allrs797044826
SNP Nexus

SNPshotrs797044826
SNPdbers797044826
MSV3drs797044826
GWAS Ctlgrs797044826
Max Magnitude0
ClinVar
Risk rs797044826(T;T)
Alt rs797044826(T;T)
Reference rs797044826(G;G)
Significance Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7591738G>T
CLNSRC
CLNACC RCV000195036.1,