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rs1057517040

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517040(-;A)
Make rs1057517040(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position7528235
GeneMCOLN1
is asnp
is mentioned by
dbSNPrs1057517040
dbSNP (old)rs1057517040
ClinGenrs1057517040
ebirs1057517040
HLIrs1057517040
Exacrs1057517040
Gnomadrs1057517040
Varsomers1057517040
Maprs1057517040
PheGenIrs1057517040
Biobankrs1057517040
1000 genomesrs1057517040
hgdprs1057517040
ensemblrs1057517040
gopubmedrs1057517040
geneviewrs1057517040
scholarrs1057517040
googlers1057517040
pharmgkbrs1057517040
gwascentralrs1057517040
openSNPrs1057517040
23andMers1057517040
23andMe allrs1057517040
SNPshotrs1057517040
SNPdbers1057517040
MSV3drs1057517040
GWAS Ctlgrs1057517040
Max Magnitude0
ClinVar
Risk rs1057517040(A;A)
Alt rs1057517040(A;A)
Reference Rs1057517040(-;-)
Significance Probable-Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7593121_7593122insA
CLNSRC
CLNACC RCV000410830.1,