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rs797044817

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTT;CTT) 0 common in clinvar
Make rs797044817(-;-)
Make rs797044817(-;CTT)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position7529187
GeneMCOLN1
is asnp
is mentioned by
dbSNPrs797044817
dbSNP (old)rs797044817
ClinGenrs797044817
ebirs797044817
HLIrs797044817
Exacrs797044817
Gnomadrs797044817
Varsomers797044817
Maprs797044817
PheGenIrs797044817
Biobankrs797044817
1000 genomesrs797044817
hgdprs797044817
ensemblrs797044817
gopubmedrs797044817
geneviewrs797044817
scholarrs797044817
googlers797044817
pharmgkbrs797044817
gwascentralrs797044817
openSNPrs797044817
23andMers797044817
23andMe allrs797044817
SNP Nexus

SNPshotrs797044817
SNPdbers797044817
MSV3drs797044817
GWAS Ctlgrs797044817
Max Magnitude0
ClinVar
Risk rs797044817(-;-)
Alt rs797044817(-;-)
Reference Rs797044817(CTT;CTT)
Significance Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7594073_7594075delCTT
CLNSRC
CLNACC RCV000192301.1,