Have questions? Visit https://www.reddit.com/r/SNPedia

rs797044832

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797044832(C;T)
Make rs797044832(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position7525164
GeneLOC105372261, MCOLN1
is asnp
is mentioned by
dbSNPrs797044832
ebirs797044832
HLIrs797044832
Exacrs797044832
Varsomers797044832
Maprs797044832
PheGenIrs797044832
hapmaprs797044832
1000 genomesrs797044832
hgdprs797044832
ensemblrs797044832
gopubmedrs797044832
geneviewrs797044832
scholarrs797044832
googlers797044832
pharmgkbrs797044832
gwascentralrs797044832
openSNPrs797044832
23andMers797044832
23andMe allrs797044832
SNP Nexus

SNPshotrs797044832
SNPdbers797044832
MSV3drs797044832
GWAS Ctlgrs797044832
Max Magnitude0
ClinVar
Risk rs797044832(T;T)
Alt rs797044832(T;T)
Reference rs797044832(C;C)
Significance Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7590050C>T
CLNSRC
CLNACC RCV000194827.1,