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rs193922515

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 carrier of a cystic fibrosis allele
(A;T) 3 cystic fibrosis carrier (most likely)
Make rs193922515(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117610517
GeneCFTR
is asnp
is mentioned by
dbSNPrs193922515
ebirs193922515
HLIrs193922515
Exacrs193922515
Varsomers193922515
Maprs193922515
PheGenIrs193922515
hapmaprs193922515
1000 genomesrs193922515
hgdprs193922515
ensemblrs193922515
gopubmedrs193922515
geneviewrs193922515
scholarrs193922515
googlers193922515
pharmgkbrs193922515
gwascentralrs193922515
openSNPrs193922515
23andMers193922515
23andMe allrs193922515
SNP Nexus

SNPshotrs193922515
SNPdbers193922515
MSV3drs193922515
GWAS Ctlgrs193922515
Max Magnitude3
ClinVar
Risk rs193922515(G,T;G,T)
Alt rs193922515(G,T;G,T)
Reference rs193922515(A;A)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117250571A>G; NC_000007.13:g.117250571A>T
CLNSRC CFTR2
CLNACC RCV000046741.3, RCV000029513.2,


[PMID 7541510] Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.