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rs397508477

From SNPedia

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


Make rs397508477(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117610532
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508477
ebirs397508477
HLIrs397508477
Exacrs397508477
Varsomers397508477
Maprs397508477
PheGenIrs397508477
hapmaprs397508477
1000 genomesrs397508477
hgdprs397508477
ensemblrs397508477
gopubmedrs397508477
geneviewrs397508477
scholarrs397508477
googlers397508477
pharmgkbrs397508477
gwascentralrs397508477
openSNPrs397508477
23andMers397508477
23andMe allrs397508477
SNP Nexus

SNPshotrs397508477
SNPdbers397508477
MSV3drs397508477
GWAS Ctlgrs397508477
Max Magnitude3

Cystic fibrosis; c.3002_3003delTG, p.Val1001Aspfs

named i5011739 and i5011741 by 23andMe

ClinVar
Risk rs397508477(;)
Alt rs397508477(;)
Reference rs397508477(TG;TG)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117250586_117250587delTG
CLNSRC CFTR2
CLNACC RCV000046752.3,