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rs397508303

From SNPedia

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


Make rs397508303(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117591959
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508303
dbSNP (classic)rs397508303
ClinGenrs397508303
ebirs397508303
HLIrs397508303
Exacrs397508303
Gnomadrs397508303
Varsomers397508303
LitVarrs397508303
Maprs397508303
PheGenIrs397508303
Biobankrs397508303
1000 genomesrs397508303
hgdprs397508303
ensemblrs397508303
geneviewrs397508303
scholarrs397508303
googlers397508303
pharmgkbrs397508303
gwascentralrs397508303
openSNPrs397508303
23andMers397508303
SNPshotrs397508303
SNPdbers397508303
MSV3drs397508303
GWAS Ctlgrs397508303
Max Magnitude3

c.1792_1798delAAAACTA (p.Lys598Glyfs), CFTR gene, cystic fibrosis-related

ClinVar
Risk rs397508303(-;-)
Alt rs397508303(-;-)
Reference Rs397508303(AAAACTA;AAAACTA)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117232013_117232019delAAAACTA
CLNSRC CFTR2 Cystic Fibrosis Mutation Database
CLNACC RCV000046477.6,