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rs797044829

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044829(A;A)
Make rs797044829(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position7530314
GeneMCOLN1
is asnp
is mentioned by
dbSNPrs797044829
ebirs797044829
HLIrs797044829
Exacrs797044829
Varsomers797044829
Maprs797044829
PheGenIrs797044829
hapmaprs797044829
1000 genomesrs797044829
hgdprs797044829
ensemblrs797044829
gopubmedrs797044829
geneviewrs797044829
scholarrs797044829
googlers797044829
pharmgkbrs797044829
gwascentralrs797044829
openSNPrs797044829
23andMers797044829
23andMe allrs797044829
SNP Nexus

SNPshotrs797044829
SNPdbers797044829
MSV3drs797044829
GWAS Ctlgrs797044829
Max Magnitude0
ClinVar
Risk rs797044829(A;A)
Alt rs797044829(A;A)
Reference rs797044829(G;G)
Significance Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7595200G>A
CLNSRC
CLNACC RCV000194185.1,