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rs397508243

From SNPedia

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


Make rs397508243(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117504364
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508243
ebirs397508243
HLIrs397508243
Exacrs397508243
Varsomers397508243
Maprs397508243
PheGenIrs397508243
hapmaprs397508243
1000 genomesrs397508243
hgdprs397508243
ensemblrs397508243
gopubmedrs397508243
geneviewrs397508243
scholarrs397508243
googlers397508243
pharmgkbrs397508243
gwascentralrs397508243
openSNPrs397508243
23andMers397508243
23andMe allrs397508243
SNP Nexus

SNPshotrs397508243
SNPdbers397508243
MSV3drs397508243
GWAS Ctlgrs397508243
Max Magnitude3
ClinVar
Risk rs397508243(A,C,T;A,C,T)
Alt rs397508243(A,C,T;A,C,T)
Reference rs397508243(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117144418G>A; NC_000007.13:g.117144418G>C; NC_000007.13:g.117144418G>T
CLNSRC CFTR2
CLNACC RCV000046367.3, RCV000046368.2, RCV000046369.2,