rs75549581

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	4	cystic fibrosis carrier
(G;G)	0	common in clinvar

Make rs75549581(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117587829

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs75549581
dbSNP (classic)	rs75549581
ClinGen	rs75549581
ebi	rs75549581
HLI	rs75549581
Exac	rs75549581
Gnomad	rs75549581
Varsome	rs75549581
LitVar	rs75549581
Map	rs75549581
PheGenI	rs75549581
Biobank	rs75549581
1000 genomes	rs75549581
hgdp	rs75549581
ensembl	rs75549581
geneview	rs75549581
scholar	rs75549581
google	rs75549581
pharmgkb	rs75549581
gwascentral	rs75549581
openSNP	rs75549581
23andMe	rs75549581
SNPshot	rs75549581
SNPdbe	rs75549581
MSV3d	rs75549581
GWAS Ctlg	rs75549581

Max Magnitude

4

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.

OMIM	602421
Desc
Variant	0015
Related	also

ClinVar
Risk	rs75549581(A;A)
Alt	rs75549581(A;A)
Reference	Rs75549581(G;G)
Significance	Pathogenic
Disease	Cystic fibrosis Hereditary pancreatitis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis Hereditary pancreatitis
Reversed	0
HGVS	NC_000007.13:g.117227883G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007543.6, RCV000319242.1,