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rs797044819

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044819(-;-)
Make rs797044819(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position7533562
GeneMCOLN1, PNPLA6
is asnp
is mentioned by
dbSNPrs797044819
dbSNP (old)rs797044819
ClinGenrs797044819
ebirs797044819
HLIrs797044819
Exacrs797044819
Varsomers797044819
Maprs797044819
PheGenIrs797044819
Biobankrs797044819
1000 genomesrs797044819
hgdprs797044819
ensemblrs797044819
gopubmedrs797044819
geneviewrs797044819
scholarrs797044819
googlers797044819
pharmgkbrs797044819
gwascentralrs797044819
openSNPrs797044819
23andMers797044819
23andMe allrs797044819
SNP Nexus

SNPshotrs797044819
SNPdbers797044819
MSV3drs797044819
GWAS Ctlgrs797044819
Merged fromRs797044831
Max Magnitude0
ClinVar
Risk rs797044819(-;-)
Alt rs797044819(-;-)
Reference Rs797044819(G;G)
Significance Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene PNPLA6 MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7598448delG
CLNSRC
CLNACC RCV000192304.1,