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rs199826652

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome7
Position117559591
GeneCFTR
is asnp
is mentioned by
dbSNPrs199826652
ebirs199826652
HLIrs199826652
Exacrs199826652
Varsomers199826652
Maprs199826652
PheGenIrs199826652
hapmaprs199826652
1000 genomesrs199826652
hgdprs199826652
ensemblrs199826652
gopubmedrs199826652
geneviewrs199826652
scholarrs199826652
googlers199826652
pharmgkbrs199826652
gwascentralrs199826652
openSNPrs199826652
23andMers199826652
23andMe allrs199826652
SNP Nexus

SNPshotrs199826652
SNPdbers199826652
MSV3drs199826652
GWAS Ctlgrs199826652
GMAF0.00551
Max Magnitude8
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 rs199826652(;)
Alt rs199826652(;)
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,