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rs397508668

From SNPedia

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


Make rs397508668(AA;AA)
ReferenceGRCh38 38.1/141
Chromosome7
Position117664801
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508668
ebirs397508668
HLIrs397508668
Exacrs397508668
Varsomers397508668
Maprs397508668
PheGenIrs397508668
hapmaprs397508668
1000 genomesrs397508668
hgdprs397508668
ensemblrs397508668
gopubmedrs397508668
geneviewrs397508668
scholarrs397508668
googlers397508668
pharmgkbrs397508668
gwascentralrs397508668
openSNPrs397508668
23andMers397508668
23andMe allrs397508668
SNP Nexus

SNPshotrs397508668
SNPdbers397508668
MSV3drs397508668
GWAS Ctlgrs397508668
Max Magnitude3

Cystic fibrosis; c.4077_4080delTGTTinsAA, p.Val1360Thrfs


ClinVar
Risk rs397508668(AA;AA)
Alt rs397508668(AA;AA)
Reference rs397508668(TGTT;TGTT)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117304855_117304858delTGTTinsAA
CLNSRC CFTR2
CLNACC RCV000056390.3,