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rs387906367

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;TGATTGATTTAC) 3 cystic fibrosis carrier
(TGATTGATTTAC;TGATTGATTTAC) 0 common in clinvar


Make rs387906367(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117536534
GeneCFTR
is asnp
is mentioned by
dbSNPrs387906367
dbSNP (classic)rs387906367
ClinGenrs387906367
ebirs387906367
HLIrs387906367
Exacrs387906367
Gnomadrs387906367
Varsomers387906367
LitVarrs387906367
Maprs387906367
PheGenIrs387906367
Biobankrs387906367
1000 genomesrs387906367
hgdprs387906367
ensemblrs387906367
geneviewrs387906367
scholarrs387906367
googlers387906367
pharmgkbrs387906367
gwascentralrs387906367
openSNPrs387906367
23andMers387906367
SNPshotrs387906367
SNPdbers387906367
MSV3drs387906367
GWAS Ctlgrs387906367
Max Magnitude3
ClinVar
Risk rs387906367(-;-)
Alt rs387906367(-;-)
Reference Rs387906367(TGATTGATTTAC;TGATTGATTTAC)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117176588_117176599delTGATTGATTTAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000007590.4,