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rs397508176

From SNPedia

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


Make rs397508176(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117542109
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508176
ebirs397508176
HLIrs397508176
Exacrs397508176
Varsomers397508176
Maprs397508176
PheGenIrs397508176
hapmaprs397508176
1000 genomesrs397508176
hgdprs397508176
ensemblrs397508176
gopubmedrs397508176
geneviewrs397508176
scholarrs397508176
googlers397508176
pharmgkbrs397508176
gwascentralrs397508176
openSNPrs397508176
23andMers397508176
23andMe allrs397508176
SNP Nexus

SNPshotrs397508176
SNPdbers397508176
MSV3drs397508176
GWAS Ctlgrs397508176
Max Magnitude3

Cystic fibrosis; c.1209+1G>A

named i5011170 by 23andMe


ClinVar
Risk rs397508176(A;A)
Alt rs397508176(A;A)
Reference rs397508176(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117182163G>A
CLNSRC CFTR2
CLNACC RCV000056345.3,