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rs193922529

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 cystic fibrosis carrier (most likely)
(G;G) 0 common in clinvar


Make rs193922529(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117535260
GeneCFTR
is asnp
is mentioned by
dbSNPrs193922529
ebirs193922529
HLIrs193922529
Exacrs193922529
Varsomers193922529
Maprs193922529
PheGenIrs193922529
hapmaprs193922529
1000 genomesrs193922529
hgdprs193922529
ensemblrs193922529
gopubmedrs193922529
geneviewrs193922529
scholarrs193922529
googlers193922529
pharmgkbrs193922529
gwascentralrs193922529
openSNPrs193922529
23andMers193922529
23andMe allrs193922529
SNP Nexus

SNPshotrs193922529
SNPdbers193922529
MSV3drs193922529
GWAS Ctlgrs193922529
Max Magnitude3
ClinVar
Risk rs193922529(A,C;A,C)
Alt rs193922529(A,C;A,C)
Reference rs193922529(G;G)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117175314G>A; NC_000007.13:g.117175314G>C
CLNSRC ClinVar LabCorp
CLNACC RCV000029542.1, RCV000047210.2,