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rs217086

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(G;G) 0 common on affy axiom data
Make rs217086(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position88312415
GeneCTSC
is asnp
is mentioned by
dbSNPrs217086
ebirs217086
HLIrs217086
Exacrs217086
Varsomers217086
Maprs217086
PheGenIrs217086
hapmaprs217086
1000 genomesrs217086
hgdprs217086
ensemblrs217086
gopubmedrs217086
geneviewrs217086
scholarrs217086
googlers217086
pharmgkbrs217086
gwascentralrs217086
openSNPrs217086
23andMers217086
23andMe allrs217086
SNP Nexus

SNPshotrs217086
SNPdbers217086
MSV3drs217086
GWAS Ctlgrs217086
GMAF0.08815
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene CTSC
allele G
frequency 0.15
sift TOLERATED
HuRef 1103649747764
Disease Association Defects in CTSC are a cause of juvenile periodontitis (JPD) (MIM:170650); also known as prepubertal periodontitis (PPP). JPD is characterized by severe and protracted gingival infections, leading to tooth loss. JPD inheritance is autosomal dominant.



GET Evidence
CTSC-I153T
aa_change Ile153Thr
aa_change_short I153T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.864008
summary



ClinVar
Risk rs217086(G;G)
Alt rs217086(G;G)
Reference rs217086(A;A)
Significance Untested
Disease
Variation info
Gene
CLNDBN
Reversed 0
HGVS NC_000011.9:g.88045583A>G
CLNSRC
CLNACC