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rs786204541

From SNPedia

Orientationplus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs786204541(CC;CC)
Make rs786204541(CC;GT)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position3648936
GeneCTNS, LOC105371493
is asnp
is mentioned by
dbSNPrs786204541
ebirs786204541
HLIrs786204541
Exacrs786204541
Varsomers786204541
Maprs786204541
PheGenIrs786204541
hapmaprs786204541
1000 genomesrs786204541
hgdprs786204541
ensemblrs786204541
gopubmedrs786204541
geneviewrs786204541
scholarrs786204541
googlers786204541
pharmgkbrs786204541
gwascentralrs786204541
openSNPrs786204541
23andMers786204541
23andMe allrs786204541
SNP Nexus

SNPshotrs786204541
SNPdbers786204541
MSV3drs786204541
GWAS Ctlgrs786204541
Max Magnitude0
ClinVar
Risk rs786204541(CC;CC)
Alt rs786204541(CC;CC)
Reference rs786204541(GT;GT)
Significance Probable-Pathogenic
Disease Cystinosis
Variation info
Gene CTNS
CLNDBN Cystinosis
Reversed 0
HGVS NC_000017.10:g.3552230_3552231delGTinsCC
CLNSRC
CLNACC RCV000169252.1,