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rs786204587

From SNPedia

Merged intors397508189
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs786204587(-;GATA)
Make rs786204587(GATA;GATA)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position117548761
GeneCFTR
is asnp
is mentioned by
dbSNPrs786204587
dbSNP (classic)rs786204587
ClinGenrs786204587
ebirs786204587
HLIrs786204587
Exacrs786204587
Gnomadrs786204587
Varsomers786204587
LitVarrs786204587
Maprs786204587
PheGenIrs786204587
Biobankrs786204587
1000 genomesrs786204587
hgdprs786204587
ensemblrs786204587
geneviewrs786204587
scholarrs786204587
googlers786204587
pharmgkbrs786204587
gwascentralrs786204587
openSNPrs786204587
23andMers786204587
SNPshotrs786204587
SNPdbers786204587
MSV3drs786204587
GWAS Ctlgrs786204587
StatusMerged into rs397508189
Max Magnitude0
ClinVar
Risk rs786204587(AGAT;AGAT)
Alt rs786204587(AGAT;AGAT)
Reference Rs786204587(;)
Significance Pathogenic
Disease Cystic fibrosis not provided
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not provided
Reversed 0
HGVS NC_000007.13:g.117188812_117188815dupGATA
CLNSRC CFTR2
CLNACC RCV000169333.1, RCV000224712.1,