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rs121908780

From SNPedia

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


Make rs121908780(AGAAA;AGAAA)
ReferenceGRCh38 38.1/141
Chromosome7
Position117592140
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908780
ebirs121908780
HLIrs121908780
Exacrs121908780
Varsomers121908780
Maprs121908780
PheGenIrs121908780
hapmaprs121908780
1000 genomesrs121908780
hgdprs121908780
ensemblrs121908780
gopubmedrs121908780
geneviewrs121908780
scholarrs121908780
googlers121908780
pharmgkbrs121908780
gwascentralrs121908780
openSNPrs121908780
23andMers121908780
23andMe allrs121908780
SNP Nexus

SNPshotrs121908780
SNPdbers121908780
MSV3drs121908780
GWAS Ctlgrs121908780
Max Magnitude3
ClinVar
Risk rs121908780(AGAAA;AGAAA)
Alt rs121908780(AGAAA;AGAAA)
Reference rs121908780(GAAATTCAATCCT;GAAATTCAATCCT)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117232194_117232206delGAAATTCAATCCTinsAGAAA
CLNSRC CFTR2
CLNACC RCV000046511.3,