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rs77409459

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of a cystic fibrosis allele
Make rs77409459(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117540243
GeneCFTR
is asnp
is mentioned by
dbSNPrs77409459
ebirs77409459
HLIrs77409459
Exacrs77409459
Varsomers77409459
Maprs77409459
PheGenIrs77409459
hapmaprs77409459
1000 genomesrs77409459
hgdprs77409459
ensemblrs77409459
gopubmedrs77409459
geneviewrs77409459
scholarrs77409459
googlers77409459
pharmgkbrs77409459
gwascentralrs77409459
openSNPrs77409459
23andMers77409459
23andMe allrs77409459
SNP Nexus

SNPshotrs77409459
SNPdbers77409459
MSV3drs77409459
GWAS Ctlgrs77409459
Max Magnitude3

Cystic fibrosis; c.1013C>T, Thr338Ile or T338I

named i5006102, i5011083, and i5053827 by 23andMe

OMIM602421
Desc
Variant0087
Relatedalso
ClinVar
Risk rs77409459(T;T)
Alt rs77409459(T;T)
Reference rs77409459(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117180297C>T
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007614.5,