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rs217115

From SNPedia

Orientationplus
Make rs217115(C;C)
Make rs217115(C;T)
Make rs217115(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position88300353
GeneCTSC
is asnp
is mentioned by
dbSNPrs217115
ebirs217115
HLIrs217115
Exacrs217115
Varsomers217115
Maprs217115
PheGenIrs217115
hapmaprs217115
1000 genomesrs217115
hgdprs217115
ensemblrs217115
gopubmedrs217115
geneviewrs217115
scholarrs217115
googlers217115
pharmgkbrs217115
gwascentralrs217115
openSNPrs217115
23andMers217115
23andMe allrs217115
SNP Nexus

SNPshotrs217115
SNPdbers217115
MSV3drs217115
GWAS Ctlgrs217115
Max Magnitude
? (C;C) (C;T) (T;T) 28

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