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rs113994205

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994205(A;A)
Make rs113994205(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position3655305
GeneCTNS
is asnp
is mentioned by
dbSNPrs113994205
ebirs113994205
HLIrs113994205
Exacrs113994205
Varsomers113994205
Maprs113994205
PheGenIrs113994205
hapmaprs113994205
1000 genomesrs113994205
hgdprs113994205
ensemblrs113994205
gopubmedrs113994205
geneviewrs113994205
scholarrs113994205
googlers113994205
pharmgkbrs113994205
gwascentralrs113994205
openSNPrs113994205
23andMers113994205
23andMe allrs113994205
SNP Nexus

SNPshotrs113994205
SNPdbers113994205
MSV3drs113994205
GWAS Ctlgrs113994205
Max Magnitude0
OMIM606272
Desc
Variant0003
Relatedalso
ClinVar
Risk rs113994205(A;A)
Alt rs113994205(A;A)
Reference rs113994205(G;G)
Significance Pathogenic
Disease Cystinosis
Variation info
Gene CTNS
CLNDBN Cystinosis
Reversed 0
HGVS NC_000017.10:g.3558599G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004693.4,


[PMID 9537412] A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.

[PMID 10482956] Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation.