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rs397508249

From SNPedia

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


Make rs397508249(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117509033
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508249
ebirs397508249
HLIrs397508249
Exacrs397508249
Varsomers397508249
Maprs397508249
PheGenIrs397508249
hapmaprs397508249
1000 genomesrs397508249
hgdprs397508249
ensemblrs397508249
gopubmedrs397508249
geneviewrs397508249
scholarrs397508249
googlers397508249
pharmgkbrs397508249
gwascentralrs397508249
openSNPrs397508249
23andMers397508249
23andMe allrs397508249
SNP Nexus

SNPshotrs397508249
SNPdbers397508249
MSV3drs397508249
GWAS Ctlgrs397508249
Max Magnitude3

cystic fibrosis; c.165-1G>A


ClinVar
Risk rs397508249(A;A)
Alt rs397508249(A;A)
Reference rs397508249(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117149087G>A
CLNSRC CFTR2
CLNACC RCV000046382.3,