Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057517453

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517453(A;G)
Make rs1057517453(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position7527862
GeneMCOLN1
is asnp
is mentioned by
dbSNPrs1057517453
dbSNP (old)rs1057517453
ClinGenrs1057517453
ebirs1057517453
HLIrs1057517453
Exacrs1057517453
Gnomadrs1057517453
Varsomers1057517453
LitVarrs1057517453
Maprs1057517453
PheGenIrs1057517453
Biobankrs1057517453
1000 genomesrs1057517453
hgdprs1057517453
ensemblrs1057517453
gopubmedrs1057517453
geneviewrs1057517453
scholarrs1057517453
googlers1057517453
pharmgkbrs1057517453
gwascentralrs1057517453
openSNPrs1057517453
23andMers1057517453
23andMe allrs1057517453
SNPshotrs1057517453
SNPdbers1057517453
MSV3drs1057517453
GWAS Ctlgrs1057517453
Max Magnitude0
ClinVar
Risk rs1057517453(G;G)
Alt rs1057517453(G;G)
Reference Rs1057517453(A;A)
Significance Probable-Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7592748A>G
CLNSRC
CLNACC RCV000409750.1,