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rs397508706

From SNPedia

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


Make rs397508706(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117666916
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508706
ebirs397508706
HLIrs397508706
Exacrs397508706
Varsomers397508706
Maprs397508706
PheGenIrs397508706
hapmaprs397508706
1000 genomesrs397508706
hgdprs397508706
ensemblrs397508706
gopubmedrs397508706
geneviewrs397508706
scholarrs397508706
googlers397508706
pharmgkbrs397508706
gwascentralrs397508706
openSNPrs397508706
23andMers397508706
23andMe allrs397508706
SNP Nexus

SNPshotrs397508706
SNPdbers397508706
MSV3drs397508706
GWAS Ctlgrs397508706
Max Magnitude3

Cystic fibrosis; c.4251delA, p.Glu1418Argfs

named i5012174 by 23andMe

ClinVar
Risk rs397508706(;)
Alt rs397508706(;)
Reference rs397508706(A;A)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117306970delA
CLNSRC CFTR2
CLNACC RCV000056391.3,