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rs397508205

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;G) 3 Carrier of a cystic fibrosis allele
(G;G) 0 common in clinvar


Make rs397508205(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117559489
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508205
ebirs397508205
HLIrs397508205
Exacrs397508205
Varsomers397508205
Maprs397508205
PheGenIrs397508205
hapmaprs397508205
1000 genomesrs397508205
hgdprs397508205
ensemblrs397508205
gopubmedrs397508205
geneviewrs397508205
scholarrs397508205
googlers397508205
pharmgkbrs397508205
gwascentralrs397508205
openSNPrs397508205
23andMers397508205
23andMe allrs397508205
SNP Nexus

SNPshotrs397508205
SNPdbers397508205
MSV3drs397508205
GWAS Ctlgrs397508205
Max Magnitude3

Cystic fibrosis; c.1418delG, p.Gly473Glufs

named i5011229 by 23andMe

ClinVar
Risk rs397508205(;)
Alt rs397508205(;)
Reference rs397508205(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117199543delG
CLNSRC CFTR2
CLNACC RCV000046300.3,