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

rs397508405

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 3 carrier of a cystic fibrosis allele
Make rs397508405(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117595039
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508405
dbSNP (classic)rs397508405
ClinGenrs397508405
ebirs397508405
HLIrs397508405
Exacrs397508405
Gnomadrs397508405
Varsomers397508405
LitVarrs397508405
Maprs397508405
PheGenIrs397508405
Biobankrs397508405
1000 genomesrs397508405
hgdprs397508405
ensemblrs397508405
geneviewrs397508405
scholarrs397508405
googlers397508405
pharmgkbrs397508405
gwascentralrs397508405
openSNPrs397508405
23andMers397508405
SNPshotrs397508405
SNPdbers397508405
MSV3drs397508405
GWAS Ctlgrs397508405
Max Magnitude3

c.2601dupA (p.Val868Serfs), CFTR gene, cystic fibrosis related

ClinVar
Risk rs397508405(A;A)
Alt rs397508405(A;A)
Reference Rs397508405(-;-)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117235094dupA
CLNSRC CFTR2
CLNACC RCV000046631.3,