Have questions? Visit https://www.reddit.com/r/SNPedia

rs193922520

From SNPedia

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


Make rs193922520(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117627775
GeneCFTR
is asnp
is mentioned by
dbSNPrs193922520
ebirs193922520
HLIrs193922520
Exacrs193922520
Varsomers193922520
Maprs193922520
PheGenIrs193922520
hapmaprs193922520
1000 genomesrs193922520
hgdprs193922520
ensemblrs193922520
gopubmedrs193922520
geneviewrs193922520
scholarrs193922520
googlers193922520
pharmgkbrs193922520
gwascentralrs193922520
openSNPrs193922520
23andMers193922520
23andMe allrs193922520
SNP Nexus

SNPshotrs193922520
SNPdbers193922520
MSV3drs193922520
GWAS Ctlgrs193922520
Max Magnitude3
ClinVar
Risk rs193922520(A;A)
Alt rs193922520(A;A)
Reference rs193922520(G;G)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117267829G>A
CLNSRC ClinVar
CLNACC RCV000029530.1,


[PMID 12439892] Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients.