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rs797044830

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs797044830(-;-)
Make rs797044830(-;TC)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position7526503
GeneLOC105372261, MCOLN1
is asnp
is mentioned by
dbSNPrs797044830
dbSNP (old)rs797044830
ClinGenrs797044830
ebirs797044830
HLIrs797044830
Exacrs797044830
Gnomadrs797044830
Varsomers797044830
Maprs797044830
PheGenIrs797044830
Biobankrs797044830
1000 genomesrs797044830
hgdprs797044830
ensemblrs797044830
gopubmedrs797044830
geneviewrs797044830
scholarrs797044830
googlers797044830
pharmgkbrs797044830
gwascentralrs797044830
openSNPrs797044830
23andMers797044830
23andMe allrs797044830
SNP Nexus

SNPshotrs797044830
SNPdbers797044830
MSV3drs797044830
GWAS Ctlgrs797044830
Max Magnitude0
ClinVar
Risk rs797044830(-;-)
Alt rs797044830(-;-)
Reference Rs797044830(TC;TC)
Significance Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7591389_7591390delTC
CLNSRC
CLNACC RCV000193619.1,