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rs1057518781

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518781(C;C)
Make rs1057518781(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position7527961
GeneMCOLN1
is asnp
is mentioned by
dbSNPrs1057518781
dbSNP (old)rs1057518781
ClinGenrs1057518781
ebirs1057518781
HLIrs1057518781
Exacrs1057518781
Gnomadrs1057518781
Varsomers1057518781
Maprs1057518781
PheGenIrs1057518781
Biobankrs1057518781
1000 genomesrs1057518781
hgdprs1057518781
ensemblrs1057518781
gopubmedrs1057518781
geneviewrs1057518781
scholarrs1057518781
googlers1057518781
pharmgkbrs1057518781
gwascentralrs1057518781
openSNPrs1057518781
23andMers1057518781
23andMe allrs1057518781
SNPshotrs1057518781
SNPdbers1057518781
MSV3drs1057518781
GWAS Ctlgrs1057518781
Max Magnitude0
ClinVar
Risk rs1057518781(C;C)
Alt rs1057518781(C;C)
Reference Rs1057518781(G;G)
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.7592847G>C
CLNSRC
CLNACC RCV000415069.1,