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rs1057516458

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516458(C;C)
Make rs1057516458(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position7529100
GeneMCOLN1
is asnp
is mentioned by
dbSNPrs1057516458
dbSNP (classic)rs1057516458
ClinGenrs1057516458
ebirs1057516458
HLIrs1057516458
Exacrs1057516458
Gnomadrs1057516458
Varsomers1057516458
LitVarrs1057516458
Maprs1057516458
PheGenIrs1057516458
Biobankrs1057516458
1000 genomesrs1057516458
hgdprs1057516458
ensemblrs1057516458
geneviewrs1057516458
scholarrs1057516458
googlers1057516458
pharmgkbrs1057516458
gwascentralrs1057516458
openSNPrs1057516458
23andMers1057516458
23andMe allrs1057516458
SNPshotrs1057516458
SNPdbers1057516458
MSV3drs1057516458
GWAS Ctlgrs1057516458
Max Magnitude0
ClinVar
Risk rs1057516458(A;A) rs1057516458(C;C)
Alt rs1057516458(A;A) rs1057516458(C;C)
Reference Rs1057516458(G;G)
Significance Probable-Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7593986G>A; NC_000019.9:g.7593986G>C
CLNSRC
CLNACC RCV000409544.1, RCV000412404.1,