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rs397508447

From SNPedia

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


Make rs397508447(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117603749
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508447
ebirs397508447
HLIrs397508447
Exacrs397508447
Varsomers397508447
Maprs397508447
PheGenIrs397508447
hapmaprs397508447
1000 genomesrs397508447
hgdprs397508447
ensemblrs397508447
gopubmedrs397508447
geneviewrs397508447
scholarrs397508447
googlers397508447
pharmgkbrs397508447
gwascentralrs397508447
openSNPrs397508447
23andMers397508447
23andMe allrs397508447
SNP Nexus

SNPshotrs397508447
SNPdbers397508447
MSV3drs397508447
GWAS Ctlgrs397508447
Max Magnitude3

Cystic fibrosis; c.2875delG, p.Ala959Hisfs

named i5011682 by 23andMe

ClinVar
Risk rs397508447(;)
Alt rs397508447(;)
Reference rs397508447(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117243803delG
CLNSRC CFTR2
CLNACC RCV000056373.4,