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rs161400

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(T;T) 0 common in complete genomics
Make rs161400(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position3658102
GeneCTNS, LOC105371492
is asnp
is mentioned by
dbSNPrs161400
dbSNP (old)rs161400
ClinGenrs161400
ebirs161400
HLIrs161400
Exacrs161400
Gnomadrs161400
Varsomers161400
LitVarrs161400
Maprs161400
PheGenIrs161400
Biobankrs161400
1000 genomesrs161400
hgdprs161400
ensemblrs161400
gopubmedrs161400
geneviewrs161400
scholarrs161400
googlers161400
pharmgkbrs161400
gwascentralrs161400
openSNPrs161400
23andMers161400
23andMe allrs161400
SNPshotrs161400
SNPdbers161400
MSV3drs161400
GWAS Ctlgrs161400
GMAF0.1598
Max Magnitude0
? (C;C) (C;T) (T;T) 28



ClinVar
Risk Rs161400(T;T)
Alt Rs161400(T;T)
Reference Rs161400(C;C)
Significance Non-pathogenic
Disease not specified Nephropathic cystinosis Cystinosis
Variation info
Gene CTNS
CLNDBN not specified Nephropathic cystinosis Cystinosis
Reversed 0
HGVS NC_000017.10:g.3561396C>T
CLNSRC
CLNACC RCV000248355.1, RCV000339531.1, RCV000380229.1,