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rs746521543

From SNPedia

Merged intors397508189
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs746521543(-;AGAT)
Make rs746521543(AGAT;AGAT)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position117548756
GeneCFTR
is asnp
is mentioned by
dbSNPrs746521543
dbSNP (classic)rs746521543
ClinGenrs746521543
ebirs746521543
HLIrs746521543
Exacrs746521543
Gnomadrs746521543
Varsomers746521543
LitVarrs746521543
Maprs746521543
PheGenIrs746521543
Biobankrs746521543
1000 genomesrs746521543
hgdprs746521543
ensemblrs746521543
geneviewrs746521543
scholarrs746521543
googlers746521543
pharmgkbrs746521543
gwascentralrs746521543
openSNPrs746521543
23andMers746521543
SNPshotrs746521543
SNPdbers746521543
MSV3drs746521543
GWAS Ctlgrs746521543
StatusMerged into rs397508189
Max Magnitude0
ClinVar
Risk rs746521543(AGAT;AGAT)
Alt rs746521543(AGAT;AGAT)
Reference Rs746521543(;)
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,