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rs387906378

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;TCAA) 3 carrier of a cystic fibrosis allele
Make rs387906378(-;-)
Make rs387906378(TCAA;TCAA)
ReferenceGRCh38 38.1/141
Chromosome7
Position117627588
GeneCFTR
is asnp
is mentioned by
dbSNPrs387906378
ebirs387906378
HLIrs387906378
Exacrs387906378
Varsomers387906378
Maprs387906378
PheGenIrs387906378
hapmaprs387906378
1000 genomesrs387906378
hgdprs387906378
ensemblrs387906378
gopubmedrs387906378
geneviewrs387906378
scholarrs387906378
googlers387906378
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gwascentralrs387906378
openSNPrs387906378
23andMers387906378
23andMe allrs387906378
SNP Nexus

SNPshotrs387906378
SNPdbers387906378
MSV3drs387906378
GWAS Ctlgrs387906378
Max Magnitude3

Cystic fibrosis; c.3535_3536insTCAA, p.Thr1179Ilefs

named i5011943 by 23andMe

ClinVar
Risk rs387906378(TCAA;TCAA)
Alt rs387906378(TCAA;TCAA)
Reference rs387906378(;)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117267639_117267642dupTCAA
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007643.2,