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rs78769542

From SNPedia

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


Make rs78769542(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117611650
GeneCFTR
is asnp
is mentioned by
dbSNPrs78769542
ebirs78769542
HLIrs78769542
Exacrs78769542
Varsomers78769542
Maprs78769542
PheGenIrs78769542
hapmaprs78769542
1000 genomesrs78769542
hgdprs78769542
ensemblrs78769542
gopubmedrs78769542
geneviewrs78769542
scholarrs78769542
googlers78769542
pharmgkbrs78769542
gwascentralrs78769542
openSNPrs78769542
23andMers78769542
23andMe allrs78769542
SNP Nexus

SNPshotrs78769542
SNPdbers78769542
MSV3drs78769542
GWAS Ctlgrs78769542
Max Magnitude3

Cystic fibrosis; c.3209G>A, p.Arg1070Gln

named i5011827 and i5053837 by 23andMe

ClinVar
Risk rs78769542(A,C;A,C)
Alt rs78769542(A,C;A,C)
Reference rs78769542(G;G)
Significance Other
Disease Cystic fibrosis Congenital bilateral absence of the vas deferens
Variation info
Gene CFTR
CLNDBN Cystic fibrosis Congenital bilateral absence of the vas deferens
Reversed 0
HGVS NC_000007.13:g.117251704G>A; NC_000007.13:g.117251704G>C
CLNSRC ClinVar LabCorp
CLNACC RCV000046825.4, RCV000176040.1, RCV000046826.2,



[PMID 12007216] Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.