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rs1057516246

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516246(A;A)
Make rs1057516246(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position7522782
GeneLOC105372261, MCOLN1
is asnp
is mentioned by
dbSNPrs1057516246
dbSNP (old)rs1057516246
ClinGenrs1057516246
ebirs1057516246
HLIrs1057516246
Exacrs1057516246
Gnomadrs1057516246
Varsomers1057516246
Maprs1057516246
PheGenIrs1057516246
Biobankrs1057516246
1000 genomesrs1057516246
hgdprs1057516246
ensemblrs1057516246
gopubmedrs1057516246
geneviewrs1057516246
scholarrs1057516246
googlers1057516246
pharmgkbrs1057516246
gwascentralrs1057516246
openSNPrs1057516246
23andMers1057516246
23andMe allrs1057516246
SNPshotrs1057516246
SNPdbers1057516246
MSV3drs1057516246
GWAS Ctlgrs1057516246
Max Magnitude0
ClinVar
Risk rs1057516246(A;A)
Alt rs1057516246(A;A)
Reference Rs1057516246(G;G)
Significance Probable-Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7587668G>A
CLNSRC
CLNACC RCV000410923.1,