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rs397508596

From SNPedia

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


Make rs397508596(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position117642435
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508596
ebirs397508596
HLIrs397508596
Exacrs397508596
Varsomers397508596
Maprs397508596
PheGenIrs397508596
hapmaprs397508596
1000 genomesrs397508596
hgdprs397508596
ensemblrs397508596
gopubmedrs397508596
geneviewrs397508596
scholarrs397508596
googlers397508596
pharmgkbrs397508596
gwascentralrs397508596
openSNPrs397508596
23andMers397508596
23andMe allrs397508596
SNP Nexus

SNPshotrs397508596
SNPdbers397508596
MSV3drs397508596
GWAS Ctlgrs397508596
Max Magnitude3
ClinVar
Risk rs397508596(C,G;C,G)
Alt rs397508596(C,G;C,G)
Reference rs397508596(T;T)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117282489T>G
CLNSRC CFTR2
CLNACC RCV000046958.3,