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rs397515498

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;T) 3 cystic fibrosis carrier
(T;T) 0 common in clinvar


Make rs397515498(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117592620
GeneCFTR
is asnp
is mentioned by
dbSNPrs397515498
ebirs397515498
HLIrs397515498
Exacrs397515498
Varsomers397515498
Maprs397515498
PheGenIrs397515498
hapmaprs397515498
1000 genomesrs397515498
hgdprs397515498
ensemblrs397515498
gopubmedrs397515498
geneviewrs397515498
scholarrs397515498
googlers397515498
pharmgkbrs397515498
gwascentralrs397515498
openSNPrs397515498
23andMers397515498
23andMe allrs397515498
SNP Nexus

SNPshotrs397515498
SNPdbers397515498
MSV3drs397515498
GWAS Ctlgrs397515498
Max Magnitude3

Cystic fibrosis; c.2453delT, p.Leu818Trpfs

named i5011556 by 23andMe

ClinVar
Risk rs397515498(;)
Alt rs397515498(;)
Reference rs397515498(T;T)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117232674delT
CLNSRC CFTR2
CLNACC RCV000056364.2,