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rs797044824

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797044824(C;T)
Make rs797044824(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position7526869
GeneLOC105372261, MCOLN1
is asnp
is mentioned by
dbSNPrs797044824
ebirs797044824
HLIrs797044824
Exacrs797044824
Varsomers797044824
Maprs797044824
PheGenIrs797044824
hapmaprs797044824
1000 genomesrs797044824
hgdprs797044824
ensemblrs797044824
gopubmedrs797044824
geneviewrs797044824
scholarrs797044824
googlers797044824
pharmgkbrs797044824
gwascentralrs797044824
openSNPrs797044824
23andMers797044824
23andMe allrs797044824
SNP Nexus

SNPshotrs797044824
SNPdbers797044824
MSV3drs797044824
GWAS Ctlgrs797044824
Max Magnitude0
ClinVar
Risk rs797044824(T;T)
Alt rs797044824(T;T)
Reference rs797044824(C;C)
Significance Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7591755C>T
CLNSRC
CLNACC RCV000195067.1,