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rs397508189

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;AGAT) 3 carrier of a cystic fibrosis allele
Make rs397508189(-;-)
Make rs397508189(AGAT;AGAT)
ReferenceGRCh38 38.1/141
Chromosome7
Position117548760
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508189
ebirs397508189
HLIrs397508189
Exacrs397508189
Varsomers397508189
Maprs397508189
PheGenIrs397508189
hapmaprs397508189
1000 genomesrs397508189
hgdprs397508189
ensemblrs397508189
gopubmedrs397508189
geneviewrs397508189
scholarrs397508189
googlers397508189
pharmgkbrs397508189
gwascentralrs397508189
openSNPrs397508189
23andMers397508189
23andMe allrs397508189
SNP Nexus

SNPshotrs397508189
SNPdbers397508189
MSV3drs397508189
GWAS Ctlgrs397508189
Max Magnitude3

Cystic fibrosis; c.1329_1330insAGAT, p.Ile444Argfs


ClinVar
Risk rs397508189(AGAT;AGAT)
Alt rs397508189(AGAT;AGAT)
Reference rs397508189(;)
Significance Pathogenic
Disease Cystic fibrosis not provided
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not provided
Reversed 0
HGVS NC_000007.13:g.117188812_117188815dupGATA
CLNSRC CFTR2
CLNACC RCV000169333.1, RCV000224712.1,