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

rs797044823

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044823(-;GGCCGCAGCAG)
Make rs797044823(GGCCGCAGCAG;GGCCGCAGCAG)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position7530389
GeneMCOLN1
is asnp
is mentioned by
dbSNPrs797044823
ClinGenrs797044823
ebirs797044823
HLIrs797044823
Exacrs797044823
Varsomers797044823
Maprs797044823
PheGenIrs797044823
hapmaprs797044823
1000 genomesrs797044823
hgdprs797044823
ensemblrs797044823
gopubmedrs797044823
geneviewrs797044823
scholarrs797044823
googlers797044823
pharmgkbrs797044823
gwascentralrs797044823
openSNPrs797044823
23andMers797044823
23andMe allrs797044823
SNP Nexus

SNPshotrs797044823
SNPdbers797044823
MSV3drs797044823
GWAS Ctlgrs797044823
Max Magnitude0
ClinVar
Risk rs797044823(CGCAGCAGGGC;CGCAGCAGGGC)
Alt rs797044823(CGCAGCAGGGC;CGCAGCAGGGC)
Reference Rs797044823(;)
Significance Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7595265_7595275dupGGCCGCAGCAG
CLNSRC
CLNACC RCV000193040.1,