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rs797044827

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797044827(C;C)
Make rs797044827(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position7529693
GeneMCOLN1
is asnp
is mentioned by
dbSNPrs797044827
ebirs797044827
HLIrs797044827
Exacrs797044827
Varsomers797044827
Maprs797044827
PheGenIrs797044827
hapmaprs797044827
1000 genomesrs797044827
hgdprs797044827
ensemblrs797044827
gopubmedrs797044827
geneviewrs797044827
scholarrs797044827
googlers797044827
pharmgkbrs797044827
gwascentralrs797044827
openSNPrs797044827
23andMers797044827
23andMe allrs797044827
SNP Nexus

SNPshotrs797044827
SNPdbers797044827
MSV3drs797044827
GWAS Ctlgrs797044827
Max Magnitude0
ClinVar
Risk rs797044827(C;C)
Alt rs797044827(C;C)
Reference rs797044827(T;T)
Significance Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7594579T>C
CLNSRC
CLNACC RCV000192526.1,