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rs397508325

From SNPedia

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


Make rs397508325(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117592151
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508325
dbSNP (classic)rs397508325
ClinGenrs397508325
ebirs397508325
HLIrs397508325
Exacrs397508325
Gnomadrs397508325
Varsomers397508325
LitVarrs397508325
Maprs397508325
PheGenIrs397508325
Biobankrs397508325
1000 genomesrs397508325
hgdprs397508325
ensemblrs397508325
geneviewrs397508325
scholarrs397508325
googlers397508325
pharmgkbrs397508325
gwascentralrs397508325
openSNPrs397508325
23andMers397508325
SNPshotrs397508325
SNPdbers397508325
MSV3drs397508325
GWAS Ctlgrs397508325
Merged fromRs397508326
Max Magnitude3
ClinVar
Risk rs397508325(-;-) rs397508325(AACT;AACT)
Alt rs397508325(-;-) rs397508325(AACT;AACT)
Reference Rs397508325(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,