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rs77834169

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 rs77834169(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117530974
GeneCFTR
is asnp
is mentioned by
dbSNPrs77834169
ebirs77834169
HLIrs77834169
Exacrs77834169
Varsomers77834169
Maprs77834169
PheGenIrs77834169
hapmaprs77834169
1000 genomesrs77834169
hgdprs77834169
ensemblrs77834169
gopubmedrs77834169
geneviewrs77834169
scholarrs77834169
googlers77834169
pharmgkbrs77834169
gwascentralrs77834169
openSNPrs77834169
23andMers77834169
23andMe allrs77834169
SNP Nexus

SNPshotrs77834169
SNPdbers77834169
MSV3drs77834169
GWAS Ctlgrs77834169
Max Magnitude3

Cystic fibrosis; c.349C>T, Arg117Cys or R117C

named i5010836 by 23andMe, but i5010835 at this same position represents the C>G change (rather than the C>T)

ClinVar
Risk rs77834169(A,G,T;A,G,T)
Alt rs77834169(A,G,T;A,G,T)
Reference rs77834169(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117171028C>G; NC_000007.13:g.117171028C>T
CLNSRC CFTR2
CLNACC RCV000046914.2, RCV000056382.3,



[PMID 11388756] Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.


[PMID 11491164] Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C.


[PMID 12007216] Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.