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rs387906360

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;TC) 3 carrier of a cystic fibrosis allele
Make rs387906360(-;-)
Make rs387906360(TC;TC)
ReferenceGRCh38 38.1/141
Chromosome7
Position117540252
GeneCFTR
is asnp
is mentioned by
dbSNPrs387906360
ebirs387906360
HLIrs387906360
Exacrs387906360
Varsomers387906360
Maprs387906360
PheGenIrs387906360
hapmaprs387906360
1000 genomesrs387906360
hgdprs387906360
ensemblrs387906360
gopubmedrs387906360
geneviewrs387906360
scholarrs387906360
googlers387906360
pharmgkbrs387906360
gwascentralrs387906360
openSNPrs387906360
23andMers387906360
23andMe allrs387906360
SNP Nexus

SNPshotrs387906360
SNPdbers387906360
MSV3drs387906360
GWAS Ctlgrs387906360
Max Magnitude3

Cystic fibrosis; c.1022_1023insTC, Phe342Hisfs


ClinVar
Risk rs387906360(TC;TC)
Alt rs387906360(TC;TC)
Reference rs387906360(;)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117180305_117180306dupTC
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007554.6,