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rs387906369

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 cystic fibrosis carrier
(G;G) 0 common in clinvar


Make rs387906369(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117642437
GeneCFTR
is asnp
is mentioned by
dbSNPrs387906369
ebirs387906369
HLIrs387906369
Exacrs387906369
Varsomers387906369
Maprs387906369
PheGenIrs387906369
hapmaprs387906369
1000 genomesrs387906369
hgdprs387906369
ensemblrs387906369
gopubmedrs387906369
geneviewrs387906369
scholarrs387906369
googlers387906369
pharmgkbrs387906369
gwascentralrs387906369
openSNPrs387906369
23andMers387906369
23andMe allrs387906369
SNP Nexus

SNPshotrs387906369
SNPdbers387906369
MSV3drs387906369
GWAS Ctlgrs387906369
Max Magnitude3

Cystic fibrosis; c.3718-1G>A

named i5011989 by 23andMe

ClinVar
Risk rs387906369(A;A)
Alt rs387906369(A;A)
Reference rs387906369(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117282491G>A
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007597.3,