Have questions? Visit https://www.reddit.com/r/SNPedia

rs80055610

From SNPedia

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


Make rs80055610(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position117587833
GeneCFTR
is asnp
is mentioned by
dbSNPrs80055610
ebirs80055610
HLIrs80055610
Exacrs80055610
Varsomers80055610
Maprs80055610
PheGenIrs80055610
hapmaprs80055610
1000 genomesrs80055610
hgdprs80055610
ensemblrs80055610
gopubmedrs80055610
geneviewrs80055610
scholarrs80055610
googlers80055610
pharmgkbrs80055610
gwascentralrs80055610
openSNPrs80055610
23andMers80055610
23andMe allrs80055610
SNP Nexus

SNPshotrs80055610
SNPdbers80055610
MSV3drs80055610
GWAS Ctlgrs80055610
Max Magnitude3

Cystic fibrosis; c.1679G>C, p.Arg560Thr as well as c.1679G>A, p.Arg560Lys

named i4000307, i5011358 and i5011359 by 23andMe

OMIM602421
Desc
Variant0016
Relatedalso
OMIM602421
Desc
Variant0052
Relatedalso
ClinVar
Risk rs80055610(A,C;A,C)
Alt rs80055610(A,C;A,C)
Reference rs80055610(G;G)
Significance Pathogenic
Disease Cystic fibrosis not provided
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not provided
Reversed 0
HGVS NC_000007.13:g.117227887G>A; NC_000007.13:g.117227887G>C
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007576.5, RCV000007533.9, RCV000224789.1,