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rs397508750

From SNPedia

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


Make rs397508750(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117534329
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508750
ebirs397508750
HLIrs397508750
Exacrs397508750
Varsomers397508750
Maprs397508750
PheGenIrs397508750
hapmaprs397508750
1000 genomesrs397508750
hgdprs397508750
ensemblrs397508750
gopubmedrs397508750
geneviewrs397508750
scholarrs397508750
googlers397508750
pharmgkbrs397508750
gwascentralrs397508750
openSNPrs397508750
23andMers397508750
23andMe allrs397508750
SNP Nexus

SNPshotrs397508750
SNPdbers397508750
MSV3drs397508750
GWAS Ctlgrs397508750
Max Magnitude3

Cystic fibrosis' c.543_546delTAGT, Leu183Phefs


ClinVar
Risk rs397508750(;)
Alt rs397508750(;)
Reference rs397508750(GTTA;GTTA)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117174383_117174386delTAGT
CLNSRC CFTR2
CLNACC RCV000047188.3,