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rs786204501

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTGA;CTGA) 0 common in clinvar
(GACT;GACT) 0 common in clinvar
Make rs786204501(-;-)
Make rs786204501(-;GACT)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position3640224
GeneCTNS, LOC105371493
is asnp
is mentioned by
dbSNPrs786204501
dbSNP (old)rs786204501
ClinGenrs786204501
ebirs786204501
HLIrs786204501
Exacrs786204501
Gnomadrs786204501
Varsomers786204501
Maprs786204501
PheGenIrs786204501
Biobankrs786204501
1000 genomesrs786204501
hgdprs786204501
ensemblrs786204501
gopubmedrs786204501
geneviewrs786204501
scholarrs786204501
googlers786204501
pharmgkbrs786204501
gwascentralrs786204501
openSNPrs786204501
23andMers786204501
23andMe allrs786204501
SNP Nexus

SNPshotrs786204501
SNPdbers786204501
MSV3drs786204501
GWAS Ctlgrs786204501
Max Magnitude0
ClinVar
Risk rs786204501(-;-) Rs786204501(CTGA;CTGA)
Alt rs786204501(-;-) Rs786204501(CTGA;CTGA)
Reference Rs786204501(GACT;GACT)
Significance Pathogenic
Disease Nephropathic cystinosis Cystinosis
Variation info
Gene CTNS
CLNDBN Nephropathic cystinosis Cystinosis
Reversed 0
HGVS NC_000017.10:g.3543518_3543521delGACT
CLNSRC
CLNACC RCV000169183.2, RCV000258029.1,