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rs397508158

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 cystic fibrosis carrier
(G;G) 0 common in clinvar


Make rs397508158(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117540347
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508158
ebirs397508158
HLIrs397508158
Exacrs397508158
Varsomers397508158
Maprs397508158
PheGenIrs397508158
hapmaprs397508158
1000 genomesrs397508158
hgdprs397508158
ensemblrs397508158
gopubmedrs397508158
geneviewrs397508158
scholarrs397508158
googlers397508158
pharmgkbrs397508158
gwascentralrs397508158
openSNPrs397508158
23andMers397508158
23andMe allrs397508158
SNP Nexus

SNPshotrs397508158
SNPdbers397508158
MSV3drs397508158
GWAS Ctlgrs397508158
Max Magnitude3

Cystic fibrosis; c.1116+1G>A


ClinVar
Risk rs397508158(A,C;A,C)
Alt rs397508158(A,C;A,C)
Reference rs397508158(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117180401G>A; NC_000007.13:g.117180401G>C
CLNSRC CFTR2
CLNACC RCV000056340.3, RCV000046235.2,