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rs755042147

From SNPedia

Orientationplus
Make rs755042147(-;-)
Make rs755042147(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position7528639
GeneMCOLN1
is asnp
is mentioned by
dbSNPrs755042147
ClinGenrs755042147
ebirs755042147
HLIrs755042147
Exacrs755042147
Varsomers755042147
Maprs755042147
PheGenIrs755042147
hapmaprs755042147
1000 genomesrs755042147
hgdprs755042147
ensemblrs755042147
gopubmedrs755042147
geneviewrs755042147
scholarrs755042147
googlers755042147
pharmgkbrs755042147
gwascentralrs755042147
openSNPrs755042147
23andMers755042147
23andMe allrs755042147
SNP Nexus

SNPshotrs755042147
SNPdbers755042147
MSV3drs755042147
GWAS Ctlgrs755042147
Max Magnitude
ClinVar
Risk
Alt
Reference Rs755042147(T;T)
Significance Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7593525delT
CLNSRC
CLNACC RCV000194725.1,