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rs797044821

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CC;CC) 0 common in clinvar
Make rs797044821(-;-)
Make rs797044821(-;CC)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position7526828
GeneLOC105372261, MCOLN1
is asnp
is mentioned by
dbSNPrs797044821
ClinGenrs797044821
ebirs797044821
HLIrs797044821
Exacrs797044821
Varsomers797044821
Maprs797044821
PheGenIrs797044821
hapmaprs797044821
1000 genomesrs797044821
hgdprs797044821
ensemblrs797044821
gopubmedrs797044821
geneviewrs797044821
scholarrs797044821
googlers797044821
pharmgkbrs797044821
gwascentralrs797044821
openSNPrs797044821
23andMers797044821
23andMe allrs797044821
SNP Nexus

SNPshotrs797044821
SNPdbers797044821
MSV3drs797044821
GWAS Ctlgrs797044821
Max Magnitude0
ClinVar
Risk rs797044821(-;-)
Alt rs797044821(-;-)
Reference Rs797044821(CC;CC)
Significance Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7591714_7591715delCC
CLNSRC
CLNACC RCV000192306.1,