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

rs397508139

From SNPedia

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


Make rs397508139(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117540237
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508139
ebirs397508139
HLIrs397508139
Exacrs397508139
Varsomers397508139
Maprs397508139
PheGenIrs397508139
hapmaprs397508139
1000 genomesrs397508139
hgdprs397508139
ensemblrs397508139
gopubmedrs397508139
geneviewrs397508139
scholarrs397508139
googlers397508139
pharmgkbrs397508139
gwascentralrs397508139
openSNPrs397508139
23andMers397508139
23andMe allrs397508139
SNP Nexus

SNPshotrs397508139
SNPdbers397508139
MSV3drs397508139
GWAS Ctlgrs397508139
Max Magnitude3

Cystic fibrosis; c.1007T>A, Ile336Lys


ClinVar
Risk rs397508139(A,C;A,C)
Alt rs397508139(A,C;A,C)
Reference rs397508139(T;T)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117180291T>A
CLNSRC CFTR2
CLNACC RCV000056337.4,