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rs397508353

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;G) 3 cystic fibrosis carrier
(G;G) 0 common in clinvar


Make rs397508353(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117592382
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508353
ebirs397508353
HLIrs397508353
Exacrs397508353
Varsomers397508353
Maprs397508353
PheGenIrs397508353
hapmaprs397508353
1000 genomesrs397508353
hgdprs397508353
ensemblrs397508353
gopubmedrs397508353
geneviewrs397508353
scholarrs397508353
googlers397508353
pharmgkbrs397508353
gwascentralrs397508353
openSNPrs397508353
23andMers397508353
23andMe allrs397508353
SNP Nexus

SNPshotrs397508353
SNPdbers397508353
MSV3drs397508353
GWAS Ctlgrs397508353
Max Magnitude3

Cystic fibrosis; c.2215delG, p.Val739Tyrfs

named i5011516 by 23andMe

ClinVar
Risk rs397508353(;)
Alt rs397508353(;)
Reference rs397508353(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117232436delG
CLNSRC CFTR2
CLNACC RCV000056361.3,