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rs387906359

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;AT) 3 carrier of a cystic fibrosis allele
Make rs387906359(-;-)
Make rs387906359(AT;AT)
ReferenceGRCh38 38.1/141
Chromosome7
Position117592589
GeneCFTR
is asnp
is mentioned by
dbSNPrs387906359
ebirs387906359
HLIrs387906359
Exacrs387906359
Varsomers387906359
Maprs387906359
PheGenIrs387906359
hapmaprs387906359
1000 genomesrs387906359
hgdprs387906359
ensemblrs387906359
gopubmedrs387906359
geneviewrs387906359
scholarrs387906359
googlers387906359
pharmgkbrs387906359
gwascentralrs387906359
openSNPrs387906359
23andMers387906359
23andMe allrs387906359
SNP Nexus

SNPshotrs387906359
SNPdbers387906359
MSV3drs387906359
GWAS Ctlgrs387906359
Max Magnitude3

Cystic fibrosis; c.2422_2423insAT, p.Ser809Ilefs

named i5011551 by 23andMe

ClinVar
Risk rs387906359(AT;AT)
Alt rs387906359(AT;AT)
Reference rs387906359(;)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117232644_117232645dupAT
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000190991.2,