rs199826652

plus

Geno	Mag	Summary
(-;-)	8	Cystic Fibrosis; homozygote for delta F-508 mutation
(-;TCT)	3.5	carrier for the most common cystic fibrosis mutation
(TCT;TCT)	0	common/normal

Reference

GRCh38 38.1/141

Chromosome

7

Position

117559591

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs199826652
dbSNP (classic)	rs199826652
ClinGen	rs199826652
ebi	rs199826652
HLI	rs199826652
Exac	rs199826652
Gnomad	rs199826652
Varsome	rs199826652
LitVar	rs199826652
Map	rs199826652
PheGenI	rs199826652
Biobank	rs199826652
1000 genomes	rs199826652
hgdp	rs199826652
ensembl	rs199826652
geneview	rs199826652
scholar	rs199826652
google	rs199826652
pharmgkb	rs199826652
gwascentral	rs199826652
openSNP	rs199826652
23andMe	rs199826652
SNPshot	rs199826652
SNPdbe	rs199826652
MSV3d	rs199826652
GWAS Ctlg	rs199826652

Status

Merged into rs113993960

GMAF

0.00551

Max Magnitude

8

rs199826652 represents the same 3 basepair deletion of the amino acid Phe at position 508 of the CFTR protein, which is commonly known as delta508, as rs113993960. This SNP therefore also represents the CFTR mutation representing ~70% of all cystic fibrosis cases.

Both SNPs exist in dbSNP. In SNPedia, the main annotation is at rs113993960, since it is the name more commonly reported in results from microarray platforms.

rs199826652 is more likely to be reported in sequencing data, though, due to the left justification of indels as specified in the VCF 4.1 (sequence) file format specification released in 2011.

ClinVar
Risk
Alt
Reference	Rs199826652(TCT;TCT)
Significance	Other
Disease	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 not provided Hereditary pancreatitis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1, modifier of not provided Hereditary pancreatitis
Reversed	0
HGVS	NC_000007.13:g.117199646_117199648delCTT
CLNSRC	CFTR2 HGMD OMIM Allelic Variant
CLNACC	RCV000007523.12, RCV000007524.5, RCV000058929.4, RCV000119038.2,