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rs755416052

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 carrier of a cystic fibrosis allele
Make rs755416052(A;T)
Make rs755416052(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position117614611
GeneCFTR
is asnp
is mentioned by
dbSNPrs755416052
dbSNP (classic)rs755416052
ClinGenrs755416052
ebirs755416052
HLIrs755416052
Exacrs755416052
Gnomadrs755416052
Varsomers755416052
LitVarrs755416052
Maprs755416052
PheGenIrs755416052
Biobankrs755416052
1000 genomesrs755416052
hgdprs755416052
ensemblrs755416052
geneviewrs755416052
scholarrs755416052
googlers755416052
pharmgkbrs755416052
gwascentralrs755416052
openSNPrs755416052
23andMers755416052
SNPshotrs755416052
SNPdbers755416052
MSV3drs755416052
GWAS Ctlgrs755416052
Max Magnitude3
ClinVar
Risk rs755416052(G;G) rs755416052(T;T)
Alt rs755416052(G;G) rs755416052(T;T)
Reference Rs755416052(A;A)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117254665A>G; NC_000007.13:g.117254665A>T
CLNSRC CFTR2
CLNACC RCV000169111.2, RCV000409745.1,