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rs141158996

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 cystic fibrosis carrier
(G;G) 0 common in clinvar


Make rs141158996(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117592658
GeneCFTR
is asnp
is mentioned by
dbSNPrs141158996
ebirs141158996
HLIrs141158996
Exacrs141158996
Varsomers141158996
Maprs141158996
PheGenIrs141158996
hapmaprs141158996
1000 genomesrs141158996
hgdprs141158996
ensemblrs141158996
gopubmedrs141158996
geneviewrs141158996
scholarrs141158996
googlers141158996
pharmgkbrs141158996
gwascentralrs141158996
openSNPrs141158996
23andMers141158996
23andMe allrs141158996
SNP Nexus

SNPshotrs141158996
SNPdbers141158996
MSV3drs141158996
GWAS Ctlgrs141158996
Max Magnitude3

Cystic fibrosis; c.2490+1G>A

named i5011570 and i6056295 by 23andMe

ClinVar
Risk rs141158996(A,T;A,T)
Alt rs141158996(A,T;A,T)
Reference rs141158996(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117232712G>A
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007595.6,