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rs397508759

From SNPedia

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


Make rs397508759(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117534363
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508759
ebirs397508759
HLIrs397508759
Exacrs397508759
Varsomers397508759
Maprs397508759
PheGenIrs397508759
hapmaprs397508759
1000 genomesrs397508759
hgdprs397508759
ensemblrs397508759
gopubmedrs397508759
geneviewrs397508759
scholarrs397508759
googlers397508759
pharmgkbrs397508759
gwascentralrs397508759
openSNPrs397508759
23andMers397508759
23andMe allrs397508759
SNP Nexus

SNPshotrs397508759
SNPdbers397508759
MSV3drs397508759
GWAS Ctlgrs397508759
Max Magnitude3
ClinVar
Risk rs397508759(A,T;A,T)
Alt rs397508759(A,T;A,T)
Reference rs397508759(G;G)
Significance Pathogenic
Disease Cystic fibrosis not provided
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not provided
Reversed 0
HGVS NC_000007.13:g.117174417G>A; NC_000007.13:g.117174417G>T
CLNSRC CFTR2 HGMD
CLNACC RCV000047198.2, RCV000047199.5, RCV000079010.3,