Have questions? Visit https://www.reddit.com/r/SNPedia

rs74597325

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Cystic fibrosis allele (carrier)
Make rs74597325(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117587811
GeneCFTR
is asnp
is mentioned by
dbSNPrs74597325
ebirs74597325
HLIrs74597325
Exacrs74597325
Varsomers74597325
Maprs74597325
PheGenIrs74597325
hapmaprs74597325
1000 genomesrs74597325
hgdprs74597325
ensemblrs74597325
gopubmedrs74597325
geneviewrs74597325
scholarrs74597325
googlers74597325
pharmgkbrs74597325
gwascentralrs74597325
openSNPrs74597325
23andMers74597325
23andMe allrs74597325
SNP Nexus

SNPshotrs74597325
SNPdbers74597325
MSV3drs74597325
GWAS Ctlgrs74597325
GMAF0.0004591
Max Magnitude3

Cystic fibrosis; c.1657C>T, p.Arg553Ter

named i4000306, i5006055, i5011335 and i6056294 by 23andMe

OMIM602421
Desc
Variant0014
Relatedalso
ClinVar
Risk rs74597325(G,T;G,T)
Alt rs74597325(G,T;G,T)
Reference rs74597325(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117227865C>G; NC_000007.13:g.117227865C>T
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000046393.2, RCV000007542.8,