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rs397508192

From SNPedia

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


Make rs397508192(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117548771
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508192
ebirs397508192
HLIrs397508192
Exacrs397508192
Varsomers397508192
Maprs397508192
PheGenIrs397508192
hapmaprs397508192
1000 genomesrs397508192
hgdprs397508192
ensemblrs397508192
gopubmedrs397508192
geneviewrs397508192
scholarrs397508192
googlers397508192
pharmgkbrs397508192
gwascentralrs397508192
openSNPrs397508192
23andMers397508192
23andMe allrs397508192
SNP Nexus

SNPshotrs397508192
SNPdbers397508192
MSV3drs397508192
GWAS Ctlgrs397508192
Max Magnitude3

Cystic fibrosis; c.1340delA, p.Lys447Argfs

named i5011201 by 23andMe


ClinVar
Risk rs397508192(;)
Alt rs397508192(;)
Reference rs397508192(A;A)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117188825delA
CLNSRC CFTR2
CLNACC RCV000046278.3,