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rs1800079

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 0.1 Likely to be benign wrt cystic fibrosis
(G;G) 0 common in clinvar


Make rs1800079(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position117534295
GeneCFTR
is asnp
is mentioned by
dbSNPrs1800079
dbSNP (old)rs1800079
ClinGenrs1800079
ebirs1800079
HLIrs1800079
Exacrs1800079
Gnomadrs1800079
Varsomers1800079
Maprs1800079
PheGenIrs1800079
Biobankrs1800079
1000 genomesrs1800079
hgdprs1800079
ensemblrs1800079
gopubmedrs1800079
geneviewrs1800079
scholarrs1800079
googlers1800079
pharmgkbrs1800079
gwascentralrs1800079
openSNPrs1800079
23andMers1800079
23andMe allrs1800079
SNPshotrs1800079
SNPdbers1800079
MSV3drs1800079
GWAS Ctlgrs1800079
Max Magnitude0.1

aka c.509G>A, p.Arg170His and R170H

The minor allele is very likely to be benign and therefore not be a pathogenic cystic fibrosis allele. It is listed in ClinVar as having conflicting conclusions as to pathogenicity, and reported based on a functional study as having full function.[PMID 29805046]

ClinVar
Risk rs1800079(A;A)
Alt rs1800079(A;A)
Reference Rs1800079(G;G)
Significance Probable-Pathogenic
Disease Cystic fibrosis Congenital bilateral absence of the vas deferens not provided
Variation info
Gene CFTR
CLNDBN Cystic fibrosis Congenital bilateral absence of the vas deferens not provided
Reversed 0
HGVS NC_000007.13:g.117174349G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000047174.5, RCV000178781.1, RCV000486111.1,