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rs75039782

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Cystic fibrosis allele (carrier)
(G;G) 0 common in complete genomics
Make rs75039782(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position117639961
GeneCFTR
is asnp
is mentioned by
dbSNPrs75039782
ebirs75039782
HLIrs75039782
Exacrs75039782
Varsomers75039782
Maprs75039782
PheGenIrs75039782
hapmaprs75039782
1000 genomesrs75039782
hgdprs75039782
ensemblrs75039782
gopubmedrs75039782
geneviewrs75039782
scholarrs75039782
googlers75039782
pharmgkbrs75039782
gwascentralrs75039782
openSNPrs75039782
23andMers75039782
23andMe allrs75039782
SNP Nexus

SNPshotrs75039782
SNPdbers75039782
MSV3drs75039782
GWAS Ctlgrs75039782
Max Magnitude3

Cystic fibrosis; c.3718-2477C>T ; 3849+10kbC>T

named i5011981 and i4000325 by 23andMe

OMIM602421
Desc
Variant0062
Relatedalso
ClinVar
Risk rs75039782(G,T;G,T)
Alt rs75039782(G,T;G,T)
Reference rs75039782(C;C)
Significance Pathogenic
Disease Cystic fibrosis not provided
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not provided
Reversed 0
HGVS NC_000007.13:g.117280015C>T
CLNSRC CFTR2 Cystic Fibrosis Mutation Database HGMD OMIM Allelic Variant
CLNACC RCV000007586.10, RCV000079001.3,


[PMID 15948195] Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.