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rs797044825

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797044825(C;C)
Make rs797044825(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position7526518
GeneLOC105372261, MCOLN1
is asnp
is mentioned by
dbSNPrs797044825
dbSNP (old)rs797044825
ClinGenrs797044825
ebirs797044825
HLIrs797044825
Exacrs797044825
Gnomadrs797044825
Varsomers797044825
Maprs797044825
PheGenIrs797044825
Biobankrs797044825
1000 genomesrs797044825
hgdprs797044825
ensemblrs797044825
gopubmedrs797044825
geneviewrs797044825
scholarrs797044825
googlers797044825
pharmgkbrs797044825
gwascentralrs797044825
openSNPrs797044825
23andMers797044825
23andMe allrs797044825
SNP Nexus

SNPshotrs797044825
SNPdbers797044825
MSV3drs797044825
GWAS Ctlgrs797044825
Max Magnitude0
ClinVar
Risk rs797044825(C;C)
Alt rs797044825(C;C)
Reference Rs797044825(T;T)
Significance Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7591404T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000194523.1,