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rs397508326

From SNPedia

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


Make rs397508326(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117592153
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508326
ebirs397508326
HLIrs397508326
Exacrs397508326
Varsomers397508326
Maprs397508326
PheGenIrs397508326
hapmaprs397508326
1000 genomesrs397508326
hgdprs397508326
ensemblrs397508326
gopubmedrs397508326
geneviewrs397508326
scholarrs397508326
googlers397508326
pharmgkbrs397508326
gwascentralrs397508326
openSNPrs397508326
23andMers397508326
23andMe allrs397508326
SNP Nexus

SNPshotrs397508326
SNPdbers397508326
MSV3drs397508326
GWAS Ctlgrs397508326
Max Magnitude3

Cystic fibrosis; c.1986_1989delAACT, p.Thr663Argfs

ClinVar
Risk rs397508326(;)
Alt rs397508326(;)
Reference rs397508326(CTAA;CTAA)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117232207_117232210delAACT
CLNSRC CFTR2
CLNACC RCV000046515.5,