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rs79282516

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 cystic fibrosis carrier
Make rs79282516(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117559509
GeneCFTR
is asnp
is mentioned by
dbSNPrs79282516
ebirs79282516
HLIrs79282516
Exacrs79282516
Varsomers79282516
Maprs79282516
PheGenIrs79282516
hapmaprs79282516
1000 genomesrs79282516
hgdprs79282516
ensemblrs79282516
gopubmedrs79282516
geneviewrs79282516
scholarrs79282516
googlers79282516
pharmgkbrs79282516
gwascentralrs79282516
openSNPrs79282516
23andMers79282516
23andMe allrs79282516
SNP Nexus

SNPshotrs79282516
SNPdbers79282516
MSV3drs79282516
GWAS Ctlgrs79282516
Max Magnitude3
OMIM602421
Desc
Variant0083
Relatedalso
ClinVar
Risk rs79282516(A,T;A,T)
Alt rs79282516(A,T;A,T)
Reference rs79282516(G;G)
Significance Pathogenic
Disease Cystic fibrosis not provided
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not provided
Reversed 0
HGVS NC_000007.13:g.117199563G>A; NC_000007.13:g.117199563G>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000046303.2, RCV000007607.3, RCV000078977.3,