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rs767122713

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs767122713(A;C)
Make rs767122713(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position7527877
GeneMCOLN1
is asnp
is mentioned by
dbSNPrs767122713
dbSNP (old)rs767122713
ClinGenrs767122713
ebirs767122713
HLIrs767122713
Exacrs767122713
Gnomadrs767122713
Varsomers767122713
Maprs767122713
PheGenIrs767122713
Biobankrs767122713
1000 genomesrs767122713
hgdprs767122713
ensemblrs767122713
gopubmedrs767122713
geneviewrs767122713
scholarrs767122713
googlers767122713
pharmgkbrs767122713
gwascentralrs767122713
openSNPrs767122713
23andMers767122713
23andMe allrs767122713
SNP Nexus

SNPshotrs767122713
SNPdbers767122713
MSV3drs767122713
GWAS Ctlgrs767122713
Max Magnitude0
ClinVar
Risk rs767122713(C;C)
Alt rs767122713(C;C)
Reference Rs767122713(A;A)
Significance Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7592763A>C
CLNSRC UniProtKB (protein)
CLNACC RCV000192300.1,