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rs217116

From SNPedia

Orientationplus
Make rs217116(A;A)
Make rs217116(A;G)
Make rs217116(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position88300493
GeneCTSC
is asnp
is mentioned by
dbSNPrs217116
ebirs217116
HLIrs217116
Exacrs217116
Varsomers217116
Maprs217116
PheGenIrs217116
hapmaprs217116
1000 genomesrs217116
hgdprs217116
ensemblrs217116
gopubmedrs217116
geneviewrs217116
scholarrs217116
googlers217116
pharmgkbrs217116
gwascentralrs217116
openSNPrs217116
23andMers217116
23andMe allrs217116
SNP Nexus

SNPshotrs217116
SNPdbers217116
MSV3drs217116
GWAS Ctlgrs217116
Max Magnitude
? (A;A) (A;G) (G;G) 28

[PMID 26205983] One mutation, two phenotypes: a single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes