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rs786204420

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs786204420(-;G)
Make rs786204420(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position3659931
GeneCTNS, LOC105371492
is asnp
is mentioned by
dbSNPrs786204420
dbSNP (classic)rs786204420
ClinGenrs786204420
ebirs786204420
HLIrs786204420
Exacrs786204420
Gnomadrs786204420
Varsomers786204420
LitVarrs786204420
Maprs786204420
PheGenIrs786204420
Biobankrs786204420
1000 genomesrs786204420
hgdprs786204420
ensemblrs786204420
geneviewrs786204420
scholarrs786204420
googlers786204420
pharmgkbrs786204420
gwascentralrs786204420
openSNPrs786204420
23andMers786204420
SNPshotrs786204420
SNPdbers786204420
MSV3drs786204420
GWAS Ctlgrs786204420
Max Magnitude0
ClinVar
Risk rs786204420(G;G)
Alt rs786204420(G;G)
Reference Rs786204420(-;-)
Significance Probable-Pathogenic
Disease Nephropathic cystinosis
Variation info
Gene CTNS
CLNDBN Nephropathic cystinosis
Reversed 0
HGVS NC_000017.10:g.3563225dupG
CLNSRC
CLNACC RCV000169007.1,