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rs387906361

From SNPedia

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


Make rs387906361(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117540311
GeneCFTR
is asnp
is mentioned by
dbSNPrs387906361
ebirs387906361
HLIrs387906361
Exacrs387906361
Varsomers387906361
Maprs387906361
PheGenIrs387906361
hapmaprs387906361
1000 genomesrs387906361
hgdprs387906361
ensemblrs387906361
gopubmedrs387906361
geneviewrs387906361
scholarrs387906361
googlers387906361
pharmgkbrs387906361
gwascentralrs387906361
openSNPrs387906361
23andMers387906361
23andMe allrs387906361
SNP Nexus

SNPshotrs387906361
SNPdbers387906361
MSV3drs387906361
GWAS Ctlgrs387906361
Max Magnitude3

c.1081delT, p.Trp361GlyfsX8; pathogenic for Cystic fibrosis

i5011116

ClinVar
Risk rs387906361(;)
Alt rs387906361(;)
Reference rs387906361(T;T)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117180365delT
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007555.5,