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rs397508746

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 carrier of a cystic fibrosis allele
Make rs397508746(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117480148
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508746
dbSNP (classic)rs397508746
ClinGenrs397508746
ebirs397508746
HLIrs397508746
Exacrs397508746
Gnomadrs397508746
Varsomers397508746
LitVarrs397508746
Maprs397508746
PheGenIrs397508746
Biobankrs397508746
1000 genomesrs397508746
hgdprs397508746
ensemblrs397508746
geneviewrs397508746
scholarrs397508746
googlers397508746
pharmgkbrs397508746
gwascentralrs397508746
openSNPrs397508746
23andMers397508746
SNPshotrs397508746
SNPdbers397508746
MSV3drs397508746
GWAS Ctlgrs397508746
Max Magnitude3
ClinVar
Risk rs397508746(T;T)
Alt rs397508746(T;T)
Reference Rs397508746(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117120202G>T
CLNSRC CFTR2
CLNACC RCV000047179.4,