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

rs397508693

From SNPedia

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


Make rs397508693(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117665518
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508693
ebirs397508693
HLIrs397508693
Exacrs397508693
Varsomers397508693
Maprs397508693
PheGenIrs397508693
hapmaprs397508693
1000 genomesrs397508693
hgdprs397508693
ensemblrs397508693
gopubmedrs397508693
geneviewrs397508693
scholarrs397508693
googlers397508693
pharmgkbrs397508693
gwascentralrs397508693
openSNPrs397508693
23andMers397508693
23andMe allrs397508693
SNP Nexus

SNPshotrs397508693
SNPdbers397508693
MSV3drs397508693
GWAS Ctlgrs397508693
Max Magnitude3

Cystic fibrosis; c.4196_4197delTC, p.Cys1400Terfs


ClinVar
Risk rs397508693(;)
Alt rs397508693(;)
Reference rs397508693(TC;TC)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117305572_117305573delTC
CLNSRC CFTR2
CLNACC RCV000047100.3,