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rs786204434

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs786204434(-;A)
Make rs786204434(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position3655064
GeneCTNS, LOC105371492
is asnp
is mentioned by
dbSNPrs786204434
dbSNP (classic)rs786204434
ClinGenrs786204434
ebirs786204434
HLIrs786204434
Exacrs786204434
Gnomadrs786204434
Varsomers786204434
LitVarrs786204434
Maprs786204434
PheGenIrs786204434
Biobankrs786204434
1000 genomesrs786204434
hgdprs786204434
ensemblrs786204434
geneviewrs786204434
scholarrs786204434
googlers786204434
pharmgkbrs786204434
gwascentralrs786204434
openSNPrs786204434
23andMers786204434
SNPshotrs786204434
SNPdbers786204434
MSV3drs786204434
GWAS Ctlgrs786204434
Max Magnitude0
ClinVar
Risk rs786204434(A;A)
Alt rs786204434(A;A)
Reference Rs786204434(-;-)
Significance Probable-Pathogenic
Disease Nephropathic cystinosis
Variation info
Gene CTNS
CLNDBN Nephropathic cystinosis
Reversed 0
HGVS NC_000017.10:g.3558358dupA
CLNSRC
CLNACC RCV000169050.1,