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rs1057516904

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516904(-;A)
Make rs1057516904(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position7528883
GeneMCOLN1
is asnp
is mentioned by
dbSNPrs1057516904
dbSNP (old)rs1057516904
ClinGenrs1057516904
ebirs1057516904
HLIrs1057516904
Exacrs1057516904
Gnomadrs1057516904
Varsomers1057516904
Maprs1057516904
PheGenIrs1057516904
Biobankrs1057516904
1000 genomesrs1057516904
hgdprs1057516904
ensemblrs1057516904
gopubmedrs1057516904
geneviewrs1057516904
scholarrs1057516904
googlers1057516904
pharmgkbrs1057516904
gwascentralrs1057516904
openSNPrs1057516904
23andMers1057516904
23andMe allrs1057516904
SNPshotrs1057516904
SNPdbers1057516904
MSV3drs1057516904
GWAS Ctlgrs1057516904
Max Magnitude0
ClinVar
Risk rs1057516904(A;A)
Alt rs1057516904(A;A)
Reference Rs1057516904(-;-)
Significance Probable-Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7593769dupA
CLNSRC
CLNACC RCV000411871.1,