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rs1057517404

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517404(-;AA)
Make rs1057517404(AA;AA)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position117642572
GeneCFTR
is asnp
is mentioned by
dbSNPrs1057517404
dbSNP (old)rs1057517404
ClinGenrs1057517404
ebirs1057517404
HLIrs1057517404
Exacrs1057517404
Gnomadrs1057517404
Varsomers1057517404
Maprs1057517404
PheGenIrs1057517404
Biobankrs1057517404
1000 genomesrs1057517404
hgdprs1057517404
ensemblrs1057517404
gopubmedrs1057517404
geneviewrs1057517404
scholarrs1057517404
googlers1057517404
pharmgkbrs1057517404
gwascentralrs1057517404
openSNPrs1057517404
23andMers1057517404
23andMe allrs1057517404
SNPshotrs1057517404
SNPdbers1057517404
MSV3drs1057517404
GWAS Ctlgrs1057517404
Max Magnitude0
ClinVar
Risk rs1057517404(AA;AA)
Alt rs1057517404(AA;AA)
Reference Rs1057517404(-;-)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117282625_117282626dupAA
CLNSRC
CLNACC RCV000412356.1,