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rs78440224

From SNPedia

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


Make rs78440224(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117534370
GeneCFTR
is asnp
is mentioned by
dbSNPrs78440224
ebirs78440224
HLIrs78440224
Exacrs78440224
Varsomers78440224
Maprs78440224
PheGenIrs78440224
hapmaprs78440224
1000 genomesrs78440224
hgdprs78440224
ensemblrs78440224
gopubmedrs78440224
geneviewrs78440224
scholarrs78440224
googlers78440224
pharmgkbrs78440224
gwascentralrs78440224
openSNPrs78440224
23andMers78440224
23andMe allrs78440224
SNP Nexus

SNPshotrs78440224
SNPdbers78440224
MSV3drs78440224
GWAS Ctlgrs78440224
Max Magnitude3

Cystic fibrosis; c.579+5G>A

named i5010947 and i5053851 by 23andMe

ClinVar
Risk rs78440224(A;A)
Alt rs78440224(A;A)
Reference rs78440224(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117174424G>A
CLNSRC CFTR2
CLNACC RCV000056397.3,