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rs797044818

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797044818(A;G)
Make rs797044818(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position7530332
GeneMCOLN1
is asnp
is mentioned by
dbSNPrs797044818
ebirs797044818
HLIrs797044818
Exacrs797044818
Varsomers797044818
Maprs797044818
PheGenIrs797044818
hapmaprs797044818
1000 genomesrs797044818
hgdprs797044818
ensemblrs797044818
gopubmedrs797044818
geneviewrs797044818
scholarrs797044818
googlers797044818
pharmgkbrs797044818
gwascentralrs797044818
openSNPrs797044818
23andMers797044818
23andMe allrs797044818
SNP Nexus

SNPshotrs797044818
SNPdbers797044818
MSV3drs797044818
GWAS Ctlgrs797044818
Max Magnitude0
ClinVar
Risk rs797044818(G;G)
Alt rs797044818(G;G)
Reference rs797044818(A;A)
Significance Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7595218A>G
CLNSRC
CLNACC RCV000192302.1,