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rs193922503

From SNPedia

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


Make rs193922503(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117587731
GeneCFTR
is asnp
is mentioned by
dbSNPrs193922503
ebirs193922503
HLIrs193922503
Exacrs193922503
Varsomers193922503
Maprs193922503
PheGenIrs193922503
hapmaprs193922503
1000 genomesrs193922503
hgdprs193922503
ensemblrs193922503
gopubmedrs193922503
geneviewrs193922503
scholarrs193922503
googlers193922503
pharmgkbrs193922503
gwascentralrs193922503
openSNPrs193922503
23andMers193922503
23andMe allrs193922503
SNP Nexus

SNPshotrs193922503
SNPdbers193922503
MSV3drs193922503
GWAS Ctlgrs193922503
Max Magnitude3

Cystic fibrosis; c.1585-8G>A

named i5011304 by 23andMe

ClinVar
Risk rs193922503(A,T;A,T)
Alt rs193922503(A,T;A,T)
Reference rs193922503(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117227785G>A
CLNSRC CFTR2
CLNACC RCV000029481.4,