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rs397508163

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 3 carrier of a cystic fibrosis allele
Make rs397508163(-;-)
Make rs397508163(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117542026
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508163
ebirs397508163
HLIrs397508163
Exacrs397508163
Varsomers397508163
Maprs397508163
PheGenIrs397508163
hapmaprs397508163
1000 genomesrs397508163
hgdprs397508163
ensemblrs397508163
gopubmedrs397508163
geneviewrs397508163
scholarrs397508163
googlers397508163
pharmgkbrs397508163
gwascentralrs397508163
openSNPrs397508163
23andMers397508163
23andMe allrs397508163
SNP Nexus

SNPshotrs397508163
SNPdbers397508163
MSV3drs397508163
GWAS Ctlgrs397508163
Max Magnitude3

Cystic fibrosis; c.1127_1128insA, p.Gln378Alafs

named i5011139 by 23andMe

ClinVar
Risk rs397508163(A;A)
Alt rs397508163(A;A)
Reference rs397508163(;)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117182081dupA
CLNSRC CFTR2
CLNACC RCV000056341.3,