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rs397508175

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 cystic fibrosis carrier
(C;G) 3 carrier of a cystic fibrosis allele
(G;G) 0 common in clinvar


Make rs397508175(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117542102
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508175
ebirs397508175
HLIrs397508175
Exacrs397508175
Varsomers397508175
Maprs397508175
PheGenIrs397508175
hapmaprs397508175
1000 genomesrs397508175
hgdprs397508175
ensemblrs397508175
gopubmedrs397508175
geneviewrs397508175
scholarrs397508175
googlers397508175
pharmgkbrs397508175
gwascentralrs397508175
openSNPrs397508175
23andMers397508175
23andMe allrs397508175
SNP Nexus

SNPshotrs397508175
SNPdbers397508175
MSV3drs397508175
GWAS Ctlgrs397508175
Max Magnitude3

Cystic fibrosis; c.1203G>A, p.Trp401Ter


ClinVar
Risk rs397508175(A,C;A,C)
Alt rs397508175(A,C;A,C)
Reference rs397508175(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117182156G>A
CLNSRC CFTR2
CLNACC RCV000056344.3,