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rs397508256

From SNPedia

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


Make rs397508256(A;A)
ReferenceGRCh38 38.1/142
Chromosome7
Position117509035
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508256
ebirs397508256
HLIrs397508256
Exacrs397508256
Varsomers397508256
Maprs397508256
PheGenIrs397508256
hapmaprs397508256
1000 genomesrs397508256
hgdprs397508256
ensemblrs397508256
gopubmedrs397508256
geneviewrs397508256
scholarrs397508256
googlers397508256
pharmgkbrs397508256
gwascentralrs397508256
openSNPrs397508256
23andMers397508256
23andMe allrs397508256
SNP Nexus

SNPshotrs397508256
SNPdbers397508256
MSV3drs397508256
GWAS Ctlgrs397508256
Max Magnitude3
Cystic fibrosis; c.166G>A, Glu56Lys or E56K
ClinVar
Risk rs397508256(A;A)
Alt rs397508256(A;A)
Reference rs397508256(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117149089G>A
CLNSRC CFTR2
CLNACC RCV000046399.3,