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rs77902683

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 cystic fibrosis carrier
Make rs77902683(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position117642568
GeneCFTR
is asnp
is mentioned by
dbSNPrs77902683
dbSNP (classic)rs77902683
ClinGenrs77902683
ebirs77902683
HLIrs77902683
Exacrs77902683
Gnomadrs77902683
Varsomers77902683
LitVarrs77902683
Maprs77902683
PheGenIrs77902683
Biobankrs77902683
1000 genomesrs77902683
hgdprs77902683
ensemblrs77902683
geneviewrs77902683
scholarrs77902683
googlers77902683
pharmgkbrs77902683
gwascentralrs77902683
openSNPrs77902683
23andMers77902683
SNPshotrs77902683
SNPdbers77902683
MSV3drs77902683
GWAS Ctlgrs77902683
Max Magnitude3
OMIM602421
Desc
Variant0063
Relatedalso
ClinVar
Risk rs77902683(A;A) rs77902683(T;T)
Alt rs77902683(A;A) rs77902683(T;T)
Reference Rs77902683(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117282622G>A; NC_000007.13:g.117282622G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000046995.2, RCV000007587.3,