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rs397508251

From SNPedia

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


Make rs397508251(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117587804
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508251
ebirs397508251
HLIrs397508251
Exacrs397508251
Varsomers397508251
Maprs397508251
PheGenIrs397508251
hapmaprs397508251
1000 genomesrs397508251
hgdprs397508251
ensemblrs397508251
gopubmedrs397508251
geneviewrs397508251
scholarrs397508251
googlers397508251
pharmgkbrs397508251
gwascentralrs397508251
openSNPrs397508251
23andMers397508251
23andMe allrs397508251
SNP Nexus

SNPshotrs397508251
SNPdbers397508251
MSV3drs397508251
GWAS Ctlgrs397508251
Max Magnitude3

Cystic fibrosis; c.1650delA, p.Gly551Valfs

named i5011328 by 23andMe

ClinVar
Risk rs397508251(;)
Alt rs397508251(;)
Reference rs397508251(A;A)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117227858delA
CLNSRC CFTR2
CLNACC RCV000046387.3,