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rs556880586

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 carrier of a cystic fibrosis allele
(G;G) 0 common in clinvar


Make rs556880586(A;A)
ReferenceGRCh38 38.1/142
Chromosome7
Position117542016
GeneCFTR
is asnp
is mentioned by
dbSNPrs556880586
dbSNP (classic)rs556880586
ClinGenrs556880586
ebirs556880586
HLIrs556880586
Exacrs556880586
Gnomadrs556880586
Varsomers556880586
LitVarrs556880586
Maprs556880586
PheGenIrs556880586
Biobankrs556880586
1000 genomesrs556880586
hgdprs556880586
ensemblrs556880586
geneviewrs556880586
scholarrs556880586
googlers556880586
pharmgkbrs556880586
gwascentralrs556880586
openSNPrs556880586
23andMers556880586
SNPshotrs556880586
SNPdbers556880586
MSV3drs556880586
GWAS Ctlgrs556880586
Max Magnitude3
ClinVar
Risk rs556880586(A;A)
Alt rs556880586(A;A)
Reference Rs556880586(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117182070G>A
CLNSRC ClinVar
CLNACC RCV000149423.1,