rs35516286

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs35516286(C;C)

Make rs35516286(C;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117531068

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs35516286
dbSNP (classic)	rs35516286
ClinGen	rs35516286
ebi	rs35516286
HLI	rs35516286
Exac	rs35516286
Gnomad	rs35516286
Varsome	rs35516286
LitVar	rs35516286
Map	rs35516286
PheGenI	rs35516286
Biobank	rs35516286
1000 genomes	rs35516286
hgdp	rs35516286
ensembl	rs35516286
geneview	rs35516286
scholar	rs35516286
google	rs35516286
pharmgkb	rs35516286
gwascentral	rs35516286
openSNP	rs35516286
23andMe	rs35516286
SNPshot	rs35516286
SNPdbe	rs35516286
MSV3d	rs35516286
GWAS Ctlg	rs35516286

GMAF

0.0004591

Max Magnitude

0

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;A) rs35516286(C;C)
Alt	rs35516286(A;A) rs35516286(C;C)
Reference	Rs35516286(T;T)
Significance	Other
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	HGMD UniProtKB (protein)
CLNACC	RCV000047137.2, RCV000047138.4, RCV000079009.5,

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