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rs1057516531

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516531(C;T)
Make rs1057516531(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position7530373
GeneMCOLN1
is asnp
is mentioned by
dbSNPrs1057516531
dbSNP (old)rs1057516531
ClinGenrs1057516531
ebirs1057516531
HLIrs1057516531
Exacrs1057516531
Gnomadrs1057516531
Varsomers1057516531
Maprs1057516531
PheGenIrs1057516531
Biobankrs1057516531
1000 genomesrs1057516531
hgdprs1057516531
ensemblrs1057516531
gopubmedrs1057516531
geneviewrs1057516531
scholarrs1057516531
googlers1057516531
pharmgkbrs1057516531
gwascentralrs1057516531
openSNPrs1057516531
23andMers1057516531
23andMe allrs1057516531
SNPshotrs1057516531
SNPdbers1057516531
MSV3drs1057516531
GWAS Ctlgrs1057516531
Max Magnitude0
ClinVar
Risk rs1057516531(T;T)
Alt rs1057516531(T;T)
Reference Rs1057516531(C;C)
Significance Probable-Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7595259C>T
CLNSRC
CLNACC RCV000412421.1,