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rs201386642

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 0.1 Likely to be a benign allele wrt cystic fibrosis
Make rs201386642(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117594945
GeneCFTR
is asnp
is mentioned by
dbSNPrs201386642
dbSNP (old)rs201386642
ClinGenrs201386642
ebirs201386642
HLIrs201386642
Exacrs201386642
Gnomadrs201386642
Varsomers201386642
Maprs201386642
PheGenIrs201386642
Biobankrs201386642
1000 genomesrs201386642
hgdprs201386642
ensemblrs201386642
gopubmedrs201386642
geneviewrs201386642
scholarrs201386642
googlers201386642
pharmgkbrs201386642
gwascentralrs201386642
openSNPrs201386642
23andMers201386642
23andMe allrs201386642
SNPshotrs201386642
SNPdbers201386642
MSV3drs201386642
GWAS Ctlgrs201386642
Max Magnitude0.1

aka c.2506G>T, p.Asp836Tyr, and D836Y

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 rs201386642(T;T)
Alt rs201386642(T;T)
Reference Rs201386642(G;G)
Significance Probable-Pathogenic
Disease Cystic fibrosis not provided not specified
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not provided not specified
Reversed 0
HGVS NC_000007.13:g.117234999G>T
CLNSRC ClinVar
CLNACC RCV000046610.3, RCV000224075.1, RCV000349381.1,