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rs147422190

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 cystic fibrosis carrier
Make rs147422190(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117548758
GeneCFTR
is asnp
is mentioned by
dbSNPrs147422190
ebirs147422190
HLIrs147422190
Exacrs147422190
Varsomers147422190
Maprs147422190
PheGenIrs147422190
hapmaprs147422190
1000 genomesrs147422190
hgdprs147422190
ensemblrs147422190
gopubmedrs147422190
geneviewrs147422190
scholarrs147422190
googlers147422190
pharmgkbrs147422190
gwascentralrs147422190
openSNPrs147422190
23andMers147422190
23andMe allrs147422190
SNP Nexus

SNPshotrs147422190
SNPdbers147422190
MSV3drs147422190
GWAS Ctlgrs147422190
GMAF0.0004591
Max Magnitude3
ClinVar
Risk rs147422190(T;T)
Alt rs147422190(T;T)
Reference rs147422190(G;G)
Significance Pathogenic
Disease Cystic fibrosis not provided not specified
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not provided not specified
Reversed 0
HGVS NC_000007.13:g.117188812G>T
CLNSRC HGMD
CLNACC RCV000046274.4, RCV000078976.3, RCV000150335.1,