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

rs797044822

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044822(-;T)
Make rs797044822(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position7529176
GeneMCOLN1
is asnp
is mentioned by
dbSNPrs797044822
ClinGenrs797044822
ebirs797044822
HLIrs797044822
Exacrs797044822
Varsomers797044822
Maprs797044822
PheGenIrs797044822
hapmaprs797044822
1000 genomesrs797044822
hgdprs797044822
ensemblrs797044822
gopubmedrs797044822
geneviewrs797044822
scholarrs797044822
googlers797044822
pharmgkbrs797044822
gwascentralrs797044822
openSNPrs797044822
23andMers797044822
23andMe allrs797044822
SNP Nexus

SNPshotrs797044822
SNPdbers797044822
MSV3drs797044822
GWAS Ctlgrs797044822
Max Magnitude0
ClinVar
Risk rs797044822(T;T)
Alt rs797044822(T;T)
Reference Rs797044822(;)
Significance Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7594062dupT
CLNSRC
CLNACC RCV000192307.1,