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rs74767530

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 Carrier for a cystic fibrosis allele
(G;G) 0 common in clinvar


Make rs74767530(A;A)
ReferenceGRCh38 38.1/142
Chromosome7
Position117627537
GeneCFTR
is asnp
is mentioned by
dbSNPrs74767530
ebirs74767530
HLIrs74767530
Exacrs74767530
Varsomers74767530
Maprs74767530
PheGenIrs74767530
hapmaprs74767530
1000 genomesrs74767530
hgdprs74767530
ensemblrs74767530
gopubmedrs74767530
geneviewrs74767530
scholarrs74767530
googlers74767530
pharmgkbrs74767530
gwascentralrs74767530
openSNPrs74767530
23andMers74767530
23andMe allrs74767530
SNP Nexus

SNPshotrs74767530
SNPdbers74767530
MSV3drs74767530
GWAS Ctlgrs74767530
Max Magnitude3

Cystic fibrosis; c.3484C>T, p.Arg1162Ter (but note dbSNP orientation for this SNP is minus strand)

named i5011932, i4000308 and i6056298 by 23andMe

OMIM602421
Desc
Variant0033
Relatedalso
ClinVar
Risk rs74767530(A;A)
Alt rs74767530(A;A)
Reference rs74767530(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 1
HGVS NC_000007.13:g.117267591C>T
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007557.8,