rs1800079

plus

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

Make rs1800079(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

117534295

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs1800079
dbSNP (classic)	rs1800079
ClinGen	rs1800079
ebi	rs1800079
HLI	rs1800079
Exac	rs1800079
Gnomad	rs1800079
Varsome	rs1800079
LitVar	rs1800079
Map	rs1800079
PheGenI	rs1800079
Biobank	rs1800079
1000 genomes	rs1800079
hgdp	rs1800079
ensembl	rs1800079
geneview	rs1800079
scholar	rs1800079
google	rs1800079
pharmgkb	rs1800079
gwascentral	rs1800079
openSNP	rs1800079
23andMe	rs1800079
SNPshot	rs1800079
SNPdbe	rs1800079
MSV3d	rs1800079
GWAS Ctlg	rs1800079

Max Magnitude

0.1

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,