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rs397508200

From SNPedia

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


Make rs397508200(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117559463
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508200
ebirs397508200
HLIrs397508200
Exacrs397508200
Varsomers397508200
Maprs397508200
PheGenIrs397508200
hapmaprs397508200
1000 genomesrs397508200
hgdprs397508200
ensemblrs397508200
gopubmedrs397508200
geneviewrs397508200
scholarrs397508200
googlers397508200
pharmgkbrs397508200
gwascentralrs397508200
openSNPrs397508200
23andMers397508200
23andMe allrs397508200
SNP Nexus

SNPshotrs397508200
SNPdbers397508200
MSV3drs397508200
GWAS Ctlgrs397508200
Max Magnitude3

Cystic fibrosis; c.1393-1G>A

named i5006135 and i5011216 by 23andMe

ClinVar
Risk rs397508200(A;A)
Alt rs397508200(A;A)
Reference rs397508200(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117199517G>A
CLNSRC CFTR2
CLNACC RCV000056347.4,