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rs35516286

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs35516286(C;C)
Make rs35516286(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117531068
GeneCFTR
is asnp
is mentioned by
dbSNPrs35516286
ebirs35516286
HLIrs35516286
Exacrs35516286
Varsomers35516286
Maprs35516286
PheGenIrs35516286
hapmaprs35516286
1000 genomesrs35516286
hgdprs35516286
ensemblrs35516286
gopubmedrs35516286
geneviewrs35516286
scholarrs35516286
googlers35516286
pharmgkbrs35516286
gwascentralrs35516286
openSNPrs35516286
23andMers35516286
23andMe allrs35516286
SNP Nexus

SNPshotrs35516286
SNPdbers35516286
MSV3drs35516286
GWAS Ctlgrs35516286
GMAF0.0004591
Max Magnitude0

Known as I148T or Ile148Thr, rs35516286 was initially thought to thought to be a mutation associated with cystic fibrosis.

However, as reported succinctly in the CFTR2 database, it is now believed that rs35516286 is only associated with cystic fibrosis CF when another mutation (usually rs121908767, aka 3199del6) is present on the same copy of the CFTR gene AND there is another CF-causing mutation on the other copy of the CFTR gene (i.e. the other chromosome). In other words, while rs35516286 may be co-inherited with a true-CF-causing variant, rs35516286 itself is not CF-causing.


ClinVar
Risk rs35516286(A,C;A,C)
Alt rs35516286(A,C;A,C)
Reference rs35516286(T;T)
Significance Non-pathogenic
Disease Cystic fibrosis not specified
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not specified
Reversed 0
HGVS NC_000007.13:g.117171122T>A; NC_000007.13:g.117171122T>C
CLNSRC Cystic Fibrosis Mutation Database HGMD
CLNACC RCV000047137.2, RCV000047138.2, RCV000079009.4,



[PMID 18716917OA-icon.png] A novel computational and structural analysis of nsSNPs in CFTR gene.