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rs1057518782

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518782(C;G)
Make rs1057518782(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position7526579
GeneLOC105372261, MCOLN1
is asnp
is mentioned by
dbSNPrs1057518782
dbSNP (old)rs1057518782
ClinGenrs1057518782
ebirs1057518782
HLIrs1057518782
Exacrs1057518782
Gnomadrs1057518782
Varsomers1057518782
LitVarrs1057518782
Maprs1057518782
PheGenIrs1057518782
Biobankrs1057518782
1000 genomesrs1057518782
hgdprs1057518782
ensemblrs1057518782
gopubmedrs1057518782
geneviewrs1057518782
scholarrs1057518782
googlers1057518782
pharmgkbrs1057518782
gwascentralrs1057518782
openSNPrs1057518782
23andMers1057518782
23andMe allrs1057518782
SNPshotrs1057518782
SNPdbers1057518782
MSV3drs1057518782
GWAS Ctlgrs1057518782
Max Magnitude0
ClinVar
Risk rs1057518782(G;G) rs1057518782(T;T)
Alt rs1057518782(G;G) rs1057518782(T;T)
Reference Rs1057518782(C;C)
Significance Probable-Pathogenic
Disease Atrophy/Degeneration affecting the brainstem Corneal opacity Delayed myelination Delayed speech and language development Growth delay Intellectual disability Periventricular leukomalacia
Variation info
Gene MCOLN1
CLNDBN Atrophy/Degeneration affecting the brainstem Corneal opacity Delayed myelination Delayed speech and language development Growth delay Intellectual disability Periventricular leukomalacia
Reversed 0
HGVS NC_000019.9:g.7591465C>G
CLNSRC
CLNACC RCV000415330.1,