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rs1057517330

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517330(C;C)
Make rs1057517330(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position3660367
GeneCTNS
is asnp
is mentioned by
dbSNPrs1057517330
dbSNP (classic)rs1057517330
ClinGenrs1057517330
ebirs1057517330
HLIrs1057517330
Exacrs1057517330
Gnomadrs1057517330
Varsomers1057517330
LitVarrs1057517330
Maprs1057517330
PheGenIrs1057517330
Biobankrs1057517330
1000 genomesrs1057517330
hgdprs1057517330
ensemblrs1057517330
geneviewrs1057517330
scholarrs1057517330
googlers1057517330
pharmgkbrs1057517330
gwascentralrs1057517330
openSNPrs1057517330
23andMers1057517330
23andMe allrs1057517330
SNPshotrs1057517330
SNPdbers1057517330
MSV3drs1057517330
GWAS Ctlgrs1057517330
Max Magnitude0
ClinVar
Risk rs1057517330(C;C)
Alt rs1057517330(C;C)
Reference Rs1057517330(T;T)
Significance Probable-Pathogenic
Disease Nephropathic cystinosis
Variation info
Gene CTNS
CLNDBN Nephropathic cystinosis
Reversed 0
HGVS NC_000017.10:g.3563661T>C
CLNSRC
CLNACC RCV000411915.1,