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rs754097561

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs754097561(A;A)
Make rs754097561(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position7529689
GeneMCOLN1
is asnp
is mentioned by
dbSNPrs754097561
ebirs754097561
HLIrs754097561
Exacrs754097561
Varsomers754097561
Maprs754097561
PheGenIrs754097561
hapmaprs754097561
1000 genomesrs754097561
hgdprs754097561
ensemblrs754097561
gopubmedrs754097561
geneviewrs754097561
scholarrs754097561
googlers754097561
pharmgkbrs754097561
gwascentralrs754097561
openSNPrs754097561
23andMers754097561
23andMe allrs754097561
SNP Nexus

SNPshotrs754097561
SNPdbers754097561
MSV3drs754097561
GWAS Ctlgrs754097561
Max Magnitude0
ClinVar
Risk rs754097561(A;A)
Alt rs754097561(A;A)
Reference rs754097561(G;G)
Significance Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7594575G>T
CLNSRC
CLNACC RCV000194491.1,