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rs397508247

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 carrier of a cystic fibrosis allele
Make rs397508247(A;A)
Make rs397508247(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position117587802
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508247
ebirs397508247
HLIrs397508247
Exacrs397508247
Varsomers397508247
Maprs397508247
PheGenIrs397508247
hapmaprs397508247
1000 genomesrs397508247
hgdprs397508247
ensemblrs397508247
gopubmedrs397508247
geneviewrs397508247
scholarrs397508247
googlers397508247
pharmgkbrs397508247
gwascentralrs397508247
openSNPrs397508247
23andMers397508247
23andMe allrs397508247
SNP Nexus

SNPshotrs397508247
SNPdbers397508247
MSV3drs397508247
GWAS Ctlgrs397508247
Max Magnitude3
ClinVar
Risk rs397508247(A,T;A,T)
Alt rs397508247(A,T;A,T)
Reference rs397508247(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117227856G>A; NC_000007.13:g.117227856G>T
CLNSRC CFTR2
CLNACC RCV000046379.2, RCV000046380.3,