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rs75789129

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 cystic fibrosis carrier
Make rs75789129(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position117587820
GeneCFTR
is asnp
is mentioned by
dbSNPrs75789129
ebirs75789129
HLIrs75789129
Exacrs75789129
Varsomers75789129
Maprs75789129
PheGenIrs75789129
hapmaprs75789129
1000 genomesrs75789129
hgdprs75789129
ensemblrs75789129
gopubmedrs75789129
geneviewrs75789129
scholarrs75789129
googlers75789129
pharmgkbrs75789129
gwascentralrs75789129
openSNPrs75789129
23andMers75789129
23andMe allrs75789129
SNP Nexus

SNPshotrs75789129
SNPdbers75789129
MSV3drs75789129
GWAS Ctlgrs75789129
GMAF0.01469
Max Magnitude3
OMIM602421
Desc
Variant0090
Relatedalso
ClinVar
Risk rs75789129(G;G)
Alt rs75789129(G;G)
Reference rs75789129(A;A)
Significance Other
Disease Cystic fibrosis not specified
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not specified
Reversed 0
HGVS NC_000007.13:g.117227874A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007617.3, RCV000174251.1,