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rs193922532

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 cystic fibrosis carrier (most likely)
Make rs193922532(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position117536629
GeneCFTR
is asnp
is mentioned by
dbSNPrs193922532
ebirs193922532
HLIrs193922532
Exacrs193922532
Varsomers193922532
Maprs193922532
PheGenIrs193922532
hapmaprs193922532
1000 genomesrs193922532
hgdprs193922532
ensemblrs193922532
gopubmedrs193922532
geneviewrs193922532
scholarrs193922532
googlers193922532
pharmgkbrs193922532
gwascentralrs193922532
openSNPrs193922532
23andMers193922532
23andMe allrs193922532
SNP Nexus

SNPshotrs193922532
SNPdbers193922532
MSV3drs193922532
GWAS Ctlgrs193922532
Max Magnitude3
ClinVar
Risk rs193922532(G;G)
Alt rs193922532(G;G)
Reference rs193922532(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117176683C>G
CLNSRC ClinVar
CLNACC RCV000029545.2,


[PMID 10794365] Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations.