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rs397508796

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 carrier of a cystic fibrosis allele
Make rs397508796(A;A)
Make rs397508796(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position117504278
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508796
ebirs397508796
HLIrs397508796
Exacrs397508796
Varsomers397508796
Maprs397508796
PheGenIrs397508796
hapmaprs397508796
1000 genomesrs397508796
hgdprs397508796
ensemblrs397508796
gopubmedrs397508796
geneviewrs397508796
scholarrs397508796
googlers397508796
pharmgkbrs397508796
gwascentralrs397508796
openSNPrs397508796
23andMers397508796
23andMe allrs397508796
SNP Nexus

SNPshotrs397508796
SNPdbers397508796
MSV3drs397508796
GWAS Ctlgrs397508796
Max Magnitude3
ClinVar
Risk rs397508796(A,C,T;A,C,T)
Alt rs397508796(A,C,T;A,C,T)
Reference rs397508796(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117144332G>A; NC_000007.13:g.117144332G>C; NC_000007.13:g.117144332G>T
CLNSRC CFTR2
CLNACC RCV000047255.2, RCV000047256.2, RCV000047257.3,