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rs74551128

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;C) 3 Cystic fibrosis allele (carrier)
(G;G) 0 common in clinvar
(G;T) 3 carrier of a cystic fibrosis allele
Make rs74551128(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117548795
GeneCFTR
is asnp
is mentioned by
dbSNPrs74551128
ebirs74551128
HLIrs74551128
Exacrs74551128
Varsomers74551128
Maprs74551128
PheGenIrs74551128
hapmaprs74551128
1000 genomesrs74551128
hgdprs74551128
ensemblrs74551128
gopubmedrs74551128
geneviewrs74551128
scholarrs74551128
googlers74551128
pharmgkbrs74551128
gwascentralrs74551128
openSNPrs74551128
23andMers74551128
23andMe allrs74551128
SNP Nexus

SNPshotrs74551128
SNPdbers74551128
MSV3drs74551128
GWAS Ctlgrs74551128
Max Magnitude3

rs74551128, also known as A455E or Ala455Glu, is a cystic fibrosis mutation. Note that this SNP is on the minus (reverse) strand in dbSNP and in SNPedia.

named i4000291, i5006050, and i5011205 by 23andMe

OMIM602421
Desc
Variant0007
Relatedalso
ClinVar
Risk rs74551128(A,T;A,T)
Alt rs74551128(A,T;A,T)
Reference rs74551128(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 1
HGVS NC_000007.13:g.117188849C>A
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007531.8,