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rs193922525

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 cystic fibrosis carrier
(G;G) 0 common in clinvar


Make rs193922525(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117664770
GeneCFTR
is asnp
is mentioned by
dbSNPrs193922525
ebirs193922525
HLIrs193922525
Exacrs193922525
Varsomers193922525
Maprs193922525
PheGenIrs193922525
hapmaprs193922525
1000 genomesrs193922525
hgdprs193922525
ensemblrs193922525
gopubmedrs193922525
geneviewrs193922525
scholarrs193922525
googlers193922525
pharmgkbrs193922525
gwascentralrs193922525
openSNPrs193922525
23andMers193922525
23andMe allrs193922525
SNP Nexus

SNPshotrs193922525
SNPdbers193922525
MSV3drs193922525
GWAS Ctlgrs193922525
Max Magnitude3

Cystic fibrosis; c.4046G>A, p.Gly1349Asp

named i5012121 by 23andMe

ClinVar
Risk rs193922525(A;A)
Alt rs193922525(A;A)
Reference rs193922525(G;G)
Significance Drug-response
Disease Cystic fibrosis ivacaftor response - Efficacy
Variation info
Gene CFTR
CLNDBN Cystic fibrosis ivacaftor response - Efficacy
Reversed 0
HGVS NC_000007.13:g.117304824G>A
CLNSRC CFTR2 PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000029536.3, RCV000211255.1,


[PMID 995076] [The Wolff-Parkinson-White syndrome. Report of 3 cases and clinical considerations].


[PMID 9272157] Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.


[PMID 11242048OA-icon.png] Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis.


[PMID 12124743] Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes.


[PMID 17578899] Discovery of alpha-aminoazaheterocycle-methylglyoxal adducts as a new class of high-affinity inhibitors of cystic fibrosis transmembrane conductance regulator chloride channels.


[PMID 19114635OA-icon.png] Mutations at the signature sequence of CFTR create a Cd(2+)-gated chloride channel.