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rs767950930

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs767950930(A;A)
Make rs767950930(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position7528704
GeneMCOLN1
is asnp
is mentioned by
dbSNPrs767950930
dbSNP (classic)rs767950930
ClinGenrs767950930
ebirs767950930
HLIrs767950930
Exacrs767950930
Gnomadrs767950930
Varsomers767950930
LitVarrs767950930
Maprs767950930
PheGenIrs767950930
Biobankrs767950930
1000 genomesrs767950930
hgdprs767950930
ensemblrs767950930
geneviewrs767950930
scholarrs767950930
googlers767950930
pharmgkbrs767950930
gwascentralrs767950930
openSNPrs767950930
23andMers767950930
23andMe allrs767950930
SNPshotrs767950930
SNPdbers767950930
MSV3drs767950930
GWAS Ctlgrs767950930
Max Magnitude0
ClinVar
Risk rs767950930(A;A)
Alt rs767950930(A;A)
Reference Rs767950930(G;G)
Significance Probable-Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7593590G>A
CLNSRC
CLNACC RCV000411895.1,