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rs1057517342

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517342(-;TACA)
Make rs1057517342(TACA;TACA)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position117535410
GeneCFTR
is asnp
is mentioned by
dbSNPrs1057517342
dbSNP (old)rs1057517342
ClinGenrs1057517342
ebirs1057517342
HLIrs1057517342
Exacrs1057517342
Gnomadrs1057517342
Varsomers1057517342
Maprs1057517342
PheGenIrs1057517342
Biobankrs1057517342
1000 genomesrs1057517342
hgdprs1057517342
ensemblrs1057517342
gopubmedrs1057517342
geneviewrs1057517342
scholarrs1057517342
googlers1057517342
pharmgkbrs1057517342
gwascentralrs1057517342
openSNPrs1057517342
23andMers1057517342
23andMe allrs1057517342
SNPshotrs1057517342
SNPdbers1057517342
MSV3drs1057517342
GWAS Ctlgrs1057517342
Max Magnitude0
ClinVar
Risk rs1057517342(TACA;TACA)
Alt rs1057517342(TACA;TACA)
Reference Rs1057517342(-;-)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117175461_117175464dupTACA
CLNSRC
CLNACC RCV000411442.1,