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rs141033578

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 3 cystic fibrosis carrier
Make rs141033578(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position117606695
GeneCFTR
is asnp
is mentioned by
dbSNPrs141033578
ebirs141033578
HLIrs141033578
Exacrs141033578
Varsomers141033578
Maprs141033578
PheGenIrs141033578
hapmaprs141033578
1000 genomesrs141033578
hgdprs141033578
ensemblrs141033578
gopubmedrs141033578
geneviewrs141033578
scholarrs141033578
googlers141033578
pharmgkbrs141033578
gwascentralrs141033578
openSNPrs141033578
23andMers141033578
23andMe allrs141033578
SNP Nexus

SNPshotrs141033578
SNPdbers141033578
MSV3drs141033578
GWAS Ctlgrs141033578
Max Magnitude3
Cystic fibrosis; c.2930C>T, p.Ser977Phe; note CFTR2 database indicates this mutation is of "varying clinical consequence"

named i5011706 by 23andMe

ClinVar
Risk rs141033578(T;T)
Alt rs141033578(T;T)
Reference rs141033578(C;C)
Significance Untested
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117246749C>T
CLNSRC
CLNACC RCV000046725.2,