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rs75549581

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 4 cystic fibrosis carrier
(G;G) 0 common in clinvar


Make rs75549581(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117587829
GeneCFTR
is asnp
is mentioned by
dbSNPrs75549581
ebirs75549581
HLIrs75549581
Exacrs75549581
Varsomers75549581
Maprs75549581
PheGenIrs75549581
hapmaprs75549581
1000 genomesrs75549581
hgdprs75549581
ensemblrs75549581
gopubmedrs75549581
geneviewrs75549581
scholarrs75549581
googlers75549581
pharmgkbrs75549581
gwascentralrs75549581
openSNPrs75549581
23andMers75549581
23andMe allrs75549581
SNP Nexus

SNPshotrs75549581
SNPdbers75549581
MSV3drs75549581
GWAS Ctlgrs75549581
Max Magnitude4

rs75549581, also known as A559T or Ala559Thr, is a SNP in the CFTR gene considered pathogenic for cystic fibrosis.

23andMe refers to this SNP as i5006056 and i5011344.

OMIM602421
Desc
Variant0015
Relatedalso
ClinVar
Risk rs75549581(A;A)
Alt rs75549581(A;A)
Reference rs75549581(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117227883G>A
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007543.6,