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rs74503330

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 cystic fibrosis carrier
(G;G) 0 common in clinvar


Make rs74503330(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117642472
GeneCFTR
is asnp
is mentioned by
dbSNPrs74503330
ebirs74503330
HLIrs74503330
Exacrs74503330
Varsomers74503330
Maprs74503330
PheGenIrs74503330
hapmaprs74503330
1000 genomesrs74503330
hgdprs74503330
ensemblrs74503330
gopubmedrs74503330
geneviewrs74503330
scholarrs74503330
googlers74503330
pharmgkbrs74503330
gwascentralrs74503330
openSNPrs74503330
23andMers74503330
23andMe allrs74503330
SNP Nexus

SNPshotrs74503330
SNPdbers74503330
MSV3drs74503330
GWAS Ctlgrs74503330
Max Magnitude3

Cystic fibrosis; c.3752G>A, p.Ser1251Asn

named i5006123, i5012007 and i5053845 by 23andMe

OMIM602421
Desc
Variant0112
Relatedalso
ClinVar
Risk rs74503330(A;A)
Alt rs74503330(A;A)
Reference rs74503330(G;G)
Significance Drug-response
Disease Cystic fibrosis ivacaftor response - Efficacy
Variation info
Gene CFTR
CLNDBN Cystic fibrosis ivacaftor response - Efficacy
Reversed 0
HGVS NC_000007.13:g.117282526G>A
CLNSRC CFTR2 OMIM Allelic Variant PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000007638.5, RCV000211301.1,