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rs797044831

From SNPedia

Merged intors797044819
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044831(-;-)
Make rs797044831(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position7533561
GeneMCOLN1, PNPLA6
is asnp
is mentioned by
dbSNPrs797044831
dbSNP (old)rs797044831
ClinGenrs797044831
ebirs797044831
HLIrs797044831
Exacrs797044831
Gnomadrs797044831
Varsomers797044831
Maprs797044831
PheGenIrs797044831
Biobankrs797044831
1000 genomesrs797044831
hgdprs797044831
ensemblrs797044831
gopubmedrs797044831
geneviewrs797044831
scholarrs797044831
googlers797044831
pharmgkbrs797044831
gwascentralrs797044831
openSNPrs797044831
23andMers797044831
23andMe allrs797044831
SNP Nexus

SNPshotrs797044831
SNPdbers797044831
MSV3drs797044831
GWAS Ctlgrs797044831
StatusMerged into rs797044819
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs797044831(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,