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rs1057516602

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516602(-;C)
Make rs1057516602(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position7524983
GeneLOC105372261, MCOLN1
is asnp
is mentioned by
dbSNPrs1057516602
dbSNP (classic)rs1057516602
ClinGenrs1057516602
ebirs1057516602
HLIrs1057516602
Exacrs1057516602
Gnomadrs1057516602
Varsomers1057516602
LitVarrs1057516602
Maprs1057516602
PheGenIrs1057516602
Biobankrs1057516602
1000 genomesrs1057516602
hgdprs1057516602
ensemblrs1057516602
geneviewrs1057516602
scholarrs1057516602
googlers1057516602
pharmgkbrs1057516602
gwascentralrs1057516602
openSNPrs1057516602
23andMers1057516602
23andMe allrs1057516602
SNPshotrs1057516602
SNPdbers1057516602
MSV3drs1057516602
GWAS Ctlgrs1057516602
Max Magnitude0
ClinVar
Risk rs1057516602(C;C)
Alt rs1057516602(C;C)
Reference Rs1057516602(-;-)
Significance Probable-Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7589869dupC
CLNSRC
CLNACC RCV000410945.1,