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rs193922506

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 cystic fibrosis carrier (most likely)
(G;G) 0 common in clinvar


Make rs193922506(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117595036
GeneCFTR
is asnp
is mentioned by
dbSNPrs193922506
ebirs193922506
HLIrs193922506
Exacrs193922506
Varsomers193922506
Maprs193922506
PheGenIrs193922506
hapmaprs193922506
1000 genomesrs193922506
hgdprs193922506
ensemblrs193922506
gopubmedrs193922506
geneviewrs193922506
scholarrs193922506
googlers193922506
pharmgkbrs193922506
gwascentralrs193922506
openSNPrs193922506
23andMers193922506
23andMe allrs193922506
SNP Nexus

SNPshotrs193922506
SNPdbers193922506
MSV3drs193922506
GWAS Ctlgrs193922506
Max Magnitude3
ClinVar
Risk rs193922506(A;A)
Alt rs193922506(A;A)
Reference rs193922506(G;G)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117235090G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029498.2,


[PMID 1284534] Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.

[PMID 7521710] Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.

[PMID 8844213] Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers.

[PMID 10923036] Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.

[PMID 11379874] Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling.

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