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rs786204632

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCT;CCT) 0 common in clinvar
(CTC;CTC) 0 common in clinvar
Make rs786204632(-;-)
Make rs786204632(-;CCT)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position3658132
GeneCTNS, LOC105371492
is asnp
is mentioned by
dbSNPrs786204632
dbSNP (classic)rs786204632
ClinGenrs786204632
ebirs786204632
HLIrs786204632
Exacrs786204632
Gnomadrs786204632
Varsomers786204632
LitVarrs786204632
Maprs786204632
PheGenIrs786204632
Biobankrs786204632
1000 genomesrs786204632
hgdprs786204632
ensemblrs786204632
geneviewrs786204632
scholarrs786204632
googlers786204632
pharmgkbrs786204632
gwascentralrs786204632
openSNPrs786204632
23andMers786204632
SNPshotrs786204632
SNPdbers786204632
MSV3drs786204632
GWAS Ctlgrs786204632
Max Magnitude0
ClinVar
Risk rs786204632(-;-) Rs786204632(CTC;CTC)
Alt rs786204632(-;-) Rs786204632(CTC;CTC)
Reference Rs786204632(CCT;CCT)
Significance Probable-Pathogenic
Disease Nephropathic cystinosis
Variation info
Gene CTNS
CLNDBN Nephropathic cystinosis
Reversed 0
HGVS NC_000017.10:g.3561426_3561428delCCT
CLNSRC
CLNACC RCV000169407.1,