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rs786204423

From SNPedia

Merged intors760256854
Orientationplus
Stabilizedplus
Geno Mag Summary
(ACG;ACG) 0 common in clinvar
Make rs786204423(-;-)
Make rs786204423(-;ACG)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position3656728
GeneCTNS, LOC105371492
is asnp
is mentioned by
dbSNPrs786204423
dbSNP (old)rs786204423
ClinGenrs786204423
ebirs786204423
HLIrs786204423
Exacrs786204423
Gnomadrs786204423
Varsomers786204423
Maprs786204423
PheGenIrs786204423
Biobankrs786204423
1000 genomesrs786204423
hgdprs786204423
ensemblrs786204423
gopubmedrs786204423
geneviewrs786204423
scholarrs786204423
googlers786204423
pharmgkbrs786204423
gwascentralrs786204423
openSNPrs786204423
23andMers786204423
23andMe allrs786204423
SNP Nexus

SNPshotrs786204423
SNPdbers786204423
MSV3drs786204423
GWAS Ctlgrs786204423
StatusMerged into rs760256854
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs786204423(ACG;ACG)
Significance Probable-Pathogenic
Disease Nephropathic cystinosis
Variation info
Gene CTNS
CLNDBN Nephropathic cystinosis
Reversed 0
HGVS NC_000017.10:g.3560022_3560024delACG
CLNSRC
CLNACC RCV000169014.1,