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rs786204667

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204667(-;-)
Make rs786204667(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position3656587
GeneCTNS, LOC105371492
is asnp
is mentioned by
dbSNPrs786204667
dbSNP (classic)rs786204667
ClinGenrs786204667
ebirs786204667
HLIrs786204667
Exacrs786204667
Gnomadrs786204667
Varsomers786204667
LitVarrs786204667
Maprs786204667
PheGenIrs786204667
Biobankrs786204667
1000 genomesrs786204667
hgdprs786204667
ensemblrs786204667
geneviewrs786204667
scholarrs786204667
googlers786204667
pharmgkbrs786204667
gwascentralrs786204667
openSNPrs786204667
23andMers786204667
SNPshotrs786204667
SNPdbers786204667
MSV3drs786204667
GWAS Ctlgrs786204667
Max Magnitude0
ClinVar
Risk rs786204667(-;-)
Alt rs786204667(-;-)
Reference Rs786204667(G;G)
Significance Probable-Pathogenic
Disease Nephropathic cystinosis
Variation info
Gene CTNS
CLNDBN Nephropathic cystinosis
Reversed 0
HGVS NC_000017.10:g.3559881delG
CLNSRC
CLNACC RCV000169470.1,