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rs193922498

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 cystic fibrosis carrier (most likely)
Make rs193922498(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position117504313
GeneCFTR
is asnp
is mentioned by
dbSNPrs193922498
ebirs193922498
HLIrs193922498
Exacrs193922498
Varsomers193922498
Maprs193922498
PheGenIrs193922498
hapmaprs193922498
1000 genomesrs193922498
hgdprs193922498
ensemblrs193922498
gopubmedrs193922498
geneviewrs193922498
scholarrs193922498
googlers193922498
pharmgkbrs193922498
gwascentralrs193922498
openSNPrs193922498
23andMers193922498
23andMe allrs193922498
SNP Nexus

SNPshotrs193922498
SNPdbers193922498
MSV3drs193922498
GWAS Ctlgrs193922498
Max Magnitude3
ClinVar
Risk rs193922498(G;G)
Alt rs193922498(G;G)
Reference rs193922498(C;C)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117144367C>G
CLNSRC ClinVar
CLNACC RCV000029470.1,