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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(TCAA;TCAA)
ReferenceGRCh38 38.1/141
Chromosome7
Position117627588
GeneCFTR
is asnp
is mentioned by
dbSNPrs387906378
dbSNP (classic)rs387906378
ClinGenrs387906378
ebirs387906378
HLIrs387906378
Exacrs387906378
Gnomadrs387906378
Varsomers387906378
LitVarrs387906378
Maprs387906378
PheGenIrs387906378
Biobankrs387906378
1000 genomesrs387906378
hgdprs387906378
ensemblrs387906378
geneviewrs387906378
scholarrs387906378
googlers387906378
pharmgkbrs387906378
gwascentralrs387906378
openSNPrs387906378
23andMers387906378
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 OMIM Allelic Variant
CLNACC RCV000007643.2,