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rs797044828

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797044828(C;G)
Make rs797044828(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position7530321
GeneMCOLN1
is asnp
is mentioned by
dbSNPrs797044828
ebirs797044828
HLIrs797044828
Exacrs797044828
Varsomers797044828
Maprs797044828
PheGenIrs797044828
hapmaprs797044828
1000 genomesrs797044828
hgdprs797044828
ensemblrs797044828
gopubmedrs797044828
geneviewrs797044828
scholarrs797044828
googlers797044828
pharmgkbrs797044828
gwascentralrs797044828
openSNPrs797044828
23andMers797044828
23andMe allrs797044828
SNP Nexus

SNPshotrs797044828
SNPdbers797044828
MSV3drs797044828
GWAS Ctlgrs797044828
Max Magnitude0
ClinVar
Risk rs797044828(G;G)
Alt rs797044828(G;G)
Reference rs797044828(C;C)
Significance Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7595207C>G
CLNSRC
CLNACC RCV000193511.1,