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rs35086888

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Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs35086888(C;T)
Make rs35086888(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position3647506
GeneCTNS
is asnp
is mentioned by
dbSNPrs35086888
ebirs35086888
HLIrs35086888
Exacrs35086888
Varsomers35086888
Maprs35086888
PheGenIrs35086888
hapmaprs35086888
1000 genomesrs35086888
hgdprs35086888
ensemblrs35086888
gopubmedrs35086888
geneviewrs35086888
scholarrs35086888
googlers35086888
pharmgkbrs35086888
gwascentralrs35086888
openSNPrs35086888
23andMers35086888
23andMe allrs35086888
SNP Nexus

SNPshotrs35086888
SNPdbers35086888
MSV3drs35086888
GWAS Ctlgrs35086888
GMAF0.01607
Max Magnitude0
OMIM606272
Desc
Variant0007
Relatedalso


ClinVar
Risk rs35086888(T;T)
Alt rs35086888(T;T)
Reference rs35086888(C;C)
Significance Pathogenic
Disease Cystinosis
Variation info
Gene CTNS
CLNDBN Cystinosis, atypical nephropathic
Reversed 1
HGVS NC_000017.10:g.3550800G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004700.3,



GET Evidence
CTNS-V42I
aa_change Val42Ile
aa_change_short V42I
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.018312
summary